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C A S E R E P O R T Open Access
Prenatal diagnosis of maternal partial
trisomy 9p23p24.3 and 14q11.2q21.3 in a
fetus: a case report
J. B. Wu
1†
, J. Sha
1†
, J. F. Zhai
1*
, Y. Liu
2
and B. Zhang
1
Abstract
Objective: This study aimed to report a fetus with maternal partial trisomy 9p and 14q and the phenotype
detected in ultrasound.
Methods: The chromosome rearrangements in the fetus were characterized by G-banding and chromosome
microarray analysis based on single nucleotide polymorphism (SNP) array of cultured amniocytes and compared
with the parents’karyotypes.
Results: The fetal abnormal karyotype was 47,XY,+der(14)(9;14)(p23;q22). The SNP array revealed a duplicate 11.8-
Mb 9p23-p24.3 fragment and a duplicate 29.6-Mb 14q11.2-q21.3 fragment. The peripheral blood karyotype of the
mother was 46,XX,t(9;14)(p23;q22), while the father’s was normal at the level of 300~400 bands. A high-resolution
karyotype analysis conformed the same abnormality of the mother at the level of 550~650 bands. These results
indicated that the fetal chromosomal abnormality probably derived from the mother. The fetal nuchal translucency
thickness was 3.5 mm, and the fetal heart was detected with around 1.0-mm ventricular defect by the ultrasound
examination at 12-week gestation. The couple decided to terminate the pregnancy. They opted for in vitro
fertilization and embryo transfer for the fourth pregnancy, which was successful.
Conclusions: The SNP array combined with cytogenetic analysis was particularly effective in identifying abnormal
chromosomal rearrangements. These methods combined with the existing database information and fetal
ultrasonography might provide a comprehensive and efficient way for the prenatal assessment of fetal situations.
Preimplantation genetic diagnosis might effectively assist those women with an adverse pregnancy history in their
next pregnancy.
Keywords: Cytogenetic analysis, Fetus, Partial 9p duplication, Partial 14q duplication, Single nucleotide
polymorphism
Introduction
Trisomy 9p is one of the most abnormal chromosomes
in newborns. However, the case of partial 9p and 14q
trisomy has been reported only once to date [1].
Chromosome trisomy is usually caused by the nondis-
junction of homologous chromosomes during gamete
formation, especially from the balanced translocation
carriers in the parents. In most cases, the trisomic seg-
ments are transmitted from the mother or father carry-
ing balanced translocation. However, genetic changes in
the embryo often result in clinical phenotypic changes.
The degree of phenotype is closely related to the exten-
sion of chromosome duplication or deletion segments.
In other words, the phenotypes are connected with a
small supernumerary marker chromosome (sSMC) [2].
Moreover, the degree of clinical symptoms is consistent
with the important functional genes in the abnormal
chromosome segments. The correlation studies between
phenotype and genotype indicated that the region from
9p22 to 9p24 was the minimal critical extension to result
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(http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
* Correspondence: zjf730801@126.com
†
J. B. Wu and J. Sha contributed equally to this work.
1
Department of Prenatal Diagnosis Medical Cente, Xuzhou Clinical School of
Xuzhou Medical University, Xuzhou Central Hospital, Affiliated Hospital of
Medical College of Southeast University, 199 South Jiefang Road, Xuzhou
221009, Jiangsu, China
Full list of author information is available at the end of the article
Wu et al. Molecular Cytogenetics (2020) 13:6
https://doi.org/10.1186/s13039-020-0473-x
Content courtesy of Springer Nature, terms of use apply. Rights reserved.
in clinical syndromes [3,4]. The derived duplication
from 14q11.2 to 14q22.3 indicated severe physical and
mental retardation defects [5]. The forkhead box protein
G1 (FOXG1) gene encompassed on 14q11.2 to 14q12
could cause severe epilepsy and developmental delay and
severe speech impairment [6,7]. This study aimed to re-
port a fetus inheriting maternal derivative chromosome
14 with partial 9p24.3p23 and 14q11.2q21.3 duplications
and abnormal phenotype, which was detected by ultra-
sound examination.
Case presentation
A 28-year-old woman who had previously experienced
two early spontaneous abortions was pregnant for the
third time. The couple were not consanguineous and did
not have any family hereditary diseases. The woman’s
last menstruation was on January 24, 2017. The nuchal
translucency thickness of the fetus was 3.5 mm, and his
heart had an approximately 1.0-mm ventricular defect
detected in ultrasound at 12-week gestation. Amniocen-
tesis was performed at 18-week gestation with the con-
sent of the parents because of the two previous
spontaneous abortions and the fetal structural abnormal-
ity. The fetal abnormal karyotype by G-banding was 47,XY,
+der(14)(9;14)(p23;q22) at the level of 300~400 bands
(Fig. 1). The SNP array revealed a duplicate 11.8-Mb frag-
ment and a duplicate 29.6-Mb fragment with the sus-
pended amniotic cells (Figs. 4and 5). The couple
underwent karyotype analysis to further identify the source
of fetal chromosomal abnormalities and the arrangement of
the cytological changes.. The results showed the same
chromosomal abnormalities in the mother (Fig. 2), but no
abnormality in the father. A high-resolution karyotype ana-
lysis identified the same abnormal karyotype of the mother
at the level of 550~650 bands once more (Fig. 3). Combined
with the CMA results, this study concluded that the fetus
had an extra derivative materal chromosome with partial 9p
and 14p duplication. The couple decided to terminate the
pregnancy at 24-week gestation after they were informed of
the possible serious consequences. A 724 g fetus was deliv-
ered with low-set ears. They selected preimplantation genetic
diagnosis (PGD) to assist the next pregnancy.
Cytogenetic and SNP array analyses
Amniocytes and peripheral blood lymphocytes of the
couple were routinely collected, cultured, and harvested.
G-banding was performed, followed by conventional cyto-
genetic analysis. Then 47,XY,+der(14)(9;14)(p23;q22) of
the fetus and 46,XX,t(9;14)(p23;q22) of the mother were
found according to the international system for human
cytogenomic nomenclature (ISCN) 2016. Further, a high-
resolution chromosome analysis of the mother’speriph-
eral blood was performed. The SNP array of suspended
cultured amniocytes was conducted using the SNP array
CytoScan 750 K probes (Affymetrix, CA, USA). The
Chromosome Analysis Suite software (ChAS) was adopted
for data analysis, and the results were analyzed using mul-
tiple databases, such as Online Mendelian Inheritance in
Man (OMIM) and Genome.
Fig. 1 The fetal karyotype was 47,XY,+der(14)(9;14)(p23;q22)mat at the level of 300~400 bands
Wu et al. Molecular Cytogenetics (2020) 13:6 Page 2 of 9
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Results
The fetal karyotype was 47,XY,+der(14)(9;14)(p23;q22)mat
at the level of 300~400 bands (Fig. 1). The mother’s
chromosome was the same as that of the fetus at the level
of both 300~400 (Fig. 2) and 550~650 bands (Fig. 3).
However, the karyotype of the father was normal. The
fetus had a duplicate 11.8-Mb 9p24.3p23 fragment
(arr[hg19] 9p24.3p23 (208 454–12 064 543) × 3, Fig. 4)
containing 32 OMIM genes, including GLI-similar 3
(GLIS3) and SWI/SNF-related matrix associated, actin-
dependent regulator of chromatin 2 (SMARCA2). The
fetus also had a duplicate 29.6-Mb 14q11.2q21.3 fragment
Fig. 2 The mother’s peripheral blood karyotype was 46,XX,t(9;14)(p23;q22) at the level of 300~400 bands
Fig. 3 The mother’s peripheral blood karyotype was 46,XX,t(9;14)(p23;q22) at the level of 550~650 bands
Wu et al. Molecular Cytogenetics (2020) 13:6 Page 3 of 9
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(arr[hg19] 14q11.2q21.3 (20 516 277–50 131 335) × 3,
Fig. 5), containing 146 OMIM genes, including chromodo-
main helicase DNA-binding protein 8 (CHD8), suppressor
of Ty 16 homolog (SUPT16H), forkhead box protein G1
(FOXG1) and protein kinase D1 (PRKD1).
Comparison with the literature
We compared the clinical phenotypes of the fetus with those
previously reported cases with duplication of chromosome 9
and 14 (Tables 1and 2). Table 1gave an overview clinical
abnormal performance of the patients with partial trisomy
9p at least overlapping with duplicated segment in our index
fetus. At the same time, we listed clinical manifestations of
the patients with partial trisomy 14q on the Table 2.There
was mostly apparent consistency in the facial and limb
anomalies and developmental delay and mental retardation
in the patients with partial trisomy 9p and (or) 14q which
might vary in degree listed in the tables above. Less com-
mon findings were congenital heart defects. A female infant
born at 35 weeks gestation with duplicated 9p13p24.3 and
14p13q22 showed craniofacial anomalies and limbs abnor-
malities and a patent ductus arteriosus [1].
Follow-up outcomes
In early March 2018, the couple underwent one cycle of
in vitro fertilization (IVF) and embryo transfer for the
fourth pregnancy and selected the PGD pregnancy pro-
cedure in the People’s Hospital of Jiangsu Province. Sub-
sequently, an amniocentesis chromosome examination
was conducted at 18-week gestation, and the karyotype
of the fetus was found to be normal. Fortunately, the
mother succeeded in delivering a healthy baby girl on
December 11, 2018.
Discussion
According to the principle of gamete distribution [33],
the possibility of the living offspring inheriting an abnor-
mal chromosome is 1/18 if either of a couple has a bal-
anced translocation. The present study reported that
fetal-derived chromosome 14 had partial 9p and 14q du-
plications. The chromosome analysis combined with the
SNP array of cultured amniocyte results revealed that
the fetal chromosomal abnormality probably derived
from the mother. That was to say, the fetus not only
inherited the normal chromosomes 9 and 14 of the par-
ents’, but also had a derived abnormal chromosome 14
from the mother. Trisomy 9p was the fourth most fre-
quent chromosome anomaly compatible with long-term
survival in live-born infants [13,14,34], meanwhile tri-
somy 14q was not less than reported trisomy 9p in the
literatures of 1970s [16–32,35]. However, the case of
Fig. 4 The fetus had a duplicated 11.8-Mb fragment at 9p24.3p23 in chromosome 9 (chr 9:208 454–12 064 543), containing 32 OMIM genes
including GLI-similar 3 (GLIS3) and SMARCA2
Wu et al. Molecular Cytogenetics (2020) 13:6 Page 4 of 9
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partial 9p and 14q trisomy has been reported only once
to date [1].
Patients with trisomy 9p are easily recognizable owing
to their facial appearance. This results in complex rear-
rangements and the possibility that some of the duplicated
genes will be dosage-sensitive, influencing the phenotype
[15]. The pericentromeric region of chromosome 9 is rich
in segmental duplication and low copy repeats that predis-
pose it to nonallelic homologous recombination. With a
high degree of sequence identity to sequences in 15p, 18p,
and 21p, chromosome 9 is inclined to illegitimate intra-
chromosomal or interchromosomal recombination. The
correlation studies between phenotype and genotype indi-
cated that the region from 9p22 to 9p24 was the minimal
critical extension to result in clinical syndromes [3,4]. Pa-
tients with 9p trisomy display variable degrees of mental
retardation and head and facial abnormal features, such as
microcephaly with a large anterior fontanelle, micro-
gnathia, a prominent or bulbous nose, malformed pro-
truding ears, deep-set eyes, mild down slanting of the
palpebral fissures, downturned corners of the mouth, con-
genital heart defects, mental retardation, and kidney and
skeletal anomalies [13,34]. A 3-year-old boy with de novo
9p24.2 to 9p23 was diagnosed with development lag and
craniofacial anomalies [36]. Some studies reported that
the partial duplication of 9p24.3p23 was related to micro-
cephaly, autism, and other clinical phenotype-related
diseases [4,15,37]. In the present study, the fetus with
9p24.3p23 contained 32 OMIM pathological genes, in-
cluding GLIS3 and SMARCA2.TheGLIS3 gene partially
had the same chromosome segments as described in the
aforementioned 3-year-old boy [36]. The fetus might be
prone to neonatal diabetes complicated with congenital
hypothyroidism, and have intrauterine developmental re-
tardation during pregnancy and low-set ears and cranio-
synostosis after birth. SMARCA2 gene mutations are
associated with Nicolaides–Baraitser syndrome of auto-
somal dominant inheritance, clinical manifestations of
short stature, microcephalus, dysgnosia, epilepsy, and
learning disabilities. The growth and structural abnormal-
ities were observed through an ultrasound examination.
Only low-set ears and abnormal nuchal translucency
thickness and heart changes of the fetus occurred during
the pregnancy, but some future symptoms such as epi-
lepsy and learning disabilities could not be detected be-
cause of the termination of pregnancy.
Another duplication of 14q11.2q21.3 of the fetus was
found with 146 OMIM genes, including CHD8,SUPT16H,
FOXG1,andPRKD1 gene mutations closely correlated
with the postnatal clinical phenotype. A 14-year-old male
patient with a de novo 14q11.2 microduplication, a region
significantly associated with quantitative trait loci for stat-
ure and a component of intelligence, was significantly
characterized by short stature, mild mental retardation,
Fig. 5 The fetus also had a duplicated 29.6-Mb fragment at 14q11.2q21.3 in chromosome 14 (chr 14: 20 516 277–50 131 335)
Wu et al. Molecular Cytogenetics (2020) 13:6 Page 5 of 9
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Table 1 Comparison of clinical phenotypes of the index patients with a partial trisomy 9p listed in order of the duplicated area of chromosome 9
Ref patients duplicated fragment Sex Age at examination Delayed development Mental retardation Typical face
a
Congenital
heart
defect
Typical limbs
b
size of the
duplication
other means of the analysis
Cuoco C,
et al. [8]
case2 p12~p24 F 15 years + + + + banding (QFQ, RBA, C)
case5 p12~p24 F 26 years + + + banding (QFQ), DaDAPI, C)
Motegi T,
et al. [9]
case p12~p24 M 3 months + + +
Tsezou A,
et al. [10]
case1 p12~p24 M 10 months + + + FISH/CGH
case2 M 6 months + + + FISH/CGH
Park IY,
et al. [11]
case p13~p24 M newborn + + + FISH
Phelan
MC, et al.
[12]
case p13~p24 M 5.5 months + moderate +
Temtamy
SA et al.
[13]
case1 9p F 4 years and 10
months
+ severe + + FISH
case2 p21~p24 M 8 years + severe + + FISH
case3 p21~p24 M 7 years and 5
months
+ + + + FISH
case4 9p F 1 year and 7
months
+ + + + FISH
case5 9p F 5 years + + + + FISH
Haddad
BR, et al.
[4]
case1 p22~p24 F 9 years low normal + + FISH
case2 M 44 years low normal + + + FISH
Achkar
WA, et al.
[14]
case p22~p24.2 F 20 years + + + + FISH/aMCB
Our
patient
case p23~p24.3 M
(fetus)
24 weeks + + 11.8 Mb SNP-array
Guilherme
RS, et al.
[15]
case1 p24.3~q21.11 M 17 years + + + + 69.9 Mb FISH/SNP-array
case2 p24.3~q21.11 F 6 years + + + + 69.9 Mb FISH/SNP-array
case3 p24.3~q13 F 6 years and 9
months
+ + + + 68.2 Mb FISH/SNP-array
case4 p24.3~q13 M 17 years + + + + 67.9 Mb FISH/SNP-array
case5 p24.3~q13 F 6 years + + + + 67.9 Mb FISH/SNP-array
a
Typical face indicates microcephaly, large anterior fontanelle, bulbous nose with nasal bridge, ptosis, deep set eyes, narrow palpebral fissures, apparent hypertelorism, low set ears, short philtrum, downturned mouth,
jaw hypoplasia, short and wide neck.
b
Typical limb includes cubitus valgus, bilateral clinodactyly of the fifth finger, brachydactyly, short hands and feet, flat feet, clubfeet
Wu et al. Molecular Cytogenetics (2020) 13:6 Page 6 of 9
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Table 2 Comparison of clinical phenotypes of the index patients with a partial trisomy 14q listed in order of the duplicated area of chromosome 14
Ref duplicated fragment Sex Age at examination Delayed development Mental
retardation
Typical face
a
Congenital heart
defect
Typical
limbs
b
size of the
duplication
other means of the
analysis
Coco R, et al. [16]Pter→q12~13 F 1 year + +
Simpson J, et al.
[17]
Pter→q12~13 F 8 months + + +
Laurent C, et al. [18]Pter→q12~13 F 3 months + +
Fryns JP, et al. [19]Pter→q12~13 F 7 years + moderate + +
Fried K, et al. [20]Pter→q21 F 19 months + + + +
Raoul O, et al. [21]Pter→q22~23 M 3 years + + +
Turleau C, et al. [22]Pter→q22~23 M 1.5 years + +
Allderdice PW, et al.
[23]
Pter→q22~23 F 4 years + + +
Muldal S, et al. [24]Pter→q22~23 F 16 years + + + +
Fawcett WA, et al.
[25]
Pter→q22~23 F 6 months + +
Yeatman GW, et al.
[26]
Pter→q22~23 F 12 years + +
Reiss JA, et al. [27]Pter→q24 M 10 months + + + +
Lopez Pajares I,
et al. [28]
Pter→q24 F 2 months + + + Q-banding
Short EM, et al. [29]Pter→q24 M 3 days + + + +
Monfort S, et al. [30] centromere to
14q11.2
M 14 years + + + 5.38 Mb MLPA/aCGH
Smyk M, et al. [31] 14q11.2 M 7 years + + 445 kb CGH
Our patient q11.2 →q21.3 M
(fetus)
24 weeks + + 29.6 Mb SNP-array
Wannenmacher B,
et al. [5]
q11.2 →q22.3 M 33 years + + + + STR/FISH
Ito M, et al. [32]q13→q22 M 7 years + +
a
and
b
stand for the same contents listed in the Table 1
Wu et al. Molecular Cytogenetics (2020) 13:6 Page 7 of 9
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and dysmorphic facial features [30]. A 445-kb 14q11.2
microduplication involving CHD8 and SUPT16H genes
causes developmental delay, intellectual disability, autism
spectrum disorders, and macrocephaly, which was found
in an 8-year-old boy [31]. The clinical phenotype of
14q11.2 microduplication included postpartum slow
growth, microcephalus, abnormal breathing patterns, gas-
troesophageal reflux, dysgnosia, and agenesis of the corpus
callosum [5,30]. The PRKD1 gene mutations are associ-
ated with autosomal dominant diseases, including con-
genital heart defects and ectodermal dysplasia [30,31].
Furthermore, the thickness of the fetal nuchal translu-
cency in the present case was 3.5 mm, and the heart had
an approximately 1.0-mm ventricular defect detected dur-
ing ultrasound examination at 12-week gestation, which
might have been caused by the PRKD1 gene mutation.
In addition, based on the homozygosity or heterozygos-
ity of polymorphic alleles inherited from the parent, uni-
parental disomy (UPD) can be classified into isodisomy
and heterodisomy. Notably, balanced familial translocatio-
nincreases the risk of fetal UPD [38]. Human chromo-
some 14q32.2 carries a number of imprinted genes such
as delta-like non-canonical Notch ligand 1 (DLK1),
retrotransposon-like 1 (RTL1), and Deiodinase, iodothyro-
nine, type III (DIO3). Both paternal UPD 14 and maternal
UPD 14 can cause disorders. Paternal UPD14 has been re-
ported to be associated with Kagami-Ogata syndrome,
which is characterized of polyhydramnios, developmental
delay, growth retardation, abdominal defects, thoracic dys-
plasia with respiratory failure, and facial abnormalities
[39]. Maternal UPD 14 causes Temple syndrome with
multiple serious phenotypes including prenatal and post-
natal growth retardation, developmental delay, joint laxity,
small hands and feet, muscular hypotonia, truncal obesity,
precocious puberty, and short stature [40]. The SNP array
analysis from the Allele difference and BAF showed no
loss of heterozygosity(LOH)in this fetus. However, hetero-
disomy could not be excluded despite less phenotype of
this fetus in ultrasound.
The pregnancy was terminated. The couple selected
one cycle of IVF and embryo transfer. Also, they chose
PGD for the fourth pregnancy in early March 2018 and
accepted amniocentesis during middle gestation in the
People’s Hospital of Jiangsu province. Fortunately, the
mother succeeded in giving birth to a healthy baby girl
on December 11, 2018.
In conclusion, the SNP array combined with cytogen-
etic analysis might help in identifying abnormal chromo-
somal rearrangements. These methods combined with
the existing database information and fetal ultrasonog-
raphy reports may provide a comprehensive and efficient
way for prenatal assessment of fetal situations. PGD ef-
fectively assists women with an adverse pregnancy his-
tory for their next pregnancy.
Abbreviations
ChAS: Chromosome Analysis Suite; CMA: Chromosome microarray analysis;
DIO3: Deiodinase, iodothyronine, type III3; DLK1: Delta-like non-canonical
Notch ligand 1; FOXG1: Forkhead box protein G1; GLIS3: Genes including GLI-
similar 3; CHD8: Chromodomain helicase DNA-binding protein 8;
ISCN: International system for human cytogenomic nomenclature; LOH: Loss
of heterozygosity; NT: Nuchal translucency; OMIM: Online Mendelian
Inheritance in Man; PGD: Plantation genetic diagnosis; PRKD1: Protein kinase
D1; RTL1: Retrotransposon-like 1; SMARCA2:SWI/SNF related matrix associated;
actin dependent regulator of chromatin 2; SNP: Single nucleotide
polymorphism; sSMC: Small supernumerary marker chromosome;
SUPT16H: Suppressor of Ty 16 Homolog; UPD: Uniparental disomy
Acknowledgements
We acknowledge and thank all participants for their cooperation and sample
contributions.
Authors’contributions
JBW and JFZ conceived of the study, designed the study, JS and YL
collected the data. All authors analysed the data and were involved in
writing the manuscript. All authors read and approved the final manuscript.
Funding
The work was supported by the science and technology bureau project of
Xuzhou (NO 18182).
Availability of data and materials
All data generated or analysed during this study are included in this
published article.
Ethics approval and consent to participate
This study was approved by Xuzhou Central Hospital Ethics Committee. The
approval number is XZXY-LJ-20161121-021.
Consent for publication
All authors consent for publication. The pregnant woman signed the
consent form of BioMed central.
Competing interests
The authors declare that they have no competing interests.
Author details
1
Department of Prenatal Diagnosis Medical Cente, Xuzhou Clinical School of
Xuzhou Medical University, Xuzhou Central Hospital, Affiliated Hospital of
Medical College of Southeast University, 199 South Jiefang Road, Xuzhou
221009, Jiangsu, China.
2
Department of Ultrasonography, Xuzhou Clinical
School of Xuzhou Medical University, Xuzhou Central Hospital, Affiliated
Hospital of Medical College of Southeast University, Xuzhou, China.
Received: 6 August 2019 Accepted: 20 January 2020
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