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Karyotype. Chromosome analysis conducted on cultured cells from peripheral blood sample indicated an abnormal karyotype with 45 chromosomes and no Y chromosome visible cytogenetically. An equivocal banding pattern was evident on the distal short arm of one copy of chromosome 2.

Karyotype. Chromosome analysis conducted on cultured cells from peripheral blood sample indicated an abnormal karyotype with 45 chromosomes and no Y chromosome visible cytogenetically. An equivocal banding pattern was evident on the distal short arm of one copy of chromosome 2.

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Figure 1 Karyotype. Chromosome analysis conducted on cultured cells...
Figure 2 Fluorescence in situ hybridisation (FISH) analysis. (Left)...
Figure 3 Height, weight and BMI SDS chart. Height was following the...
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45,X male – rare case of unbalanced translocation of Y chromosome to chromosome 2 presenting with developmental delay, learning difficulty and obesity
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  • Nov 2022
A male phenotype accompanied by a 45,X karyotype is rare. It may occur due to Y chromosomal translocation or insertion to X/autosome. Clinical presentation may vary depending on the presence of the Y chromosomal locus and the degree of loss of autosome material. 45,X males can present with short stature and Turner syndrome phenotype due to haploins...
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... A gene (FMR1) by fluorescent PCR analysis reveals CGG repeat within the normal range. Conventional cytogenetics revealed 45,X,der(2)t(Y:2)(?:p25). Chromosome analysis conducted on cultured cells from peripheral blood sample from this male child has indicated an abnormal karyotype with 45 chromosomes and no Y chromosome visible cytogenetically (Fig. 1). Additionally, an equivocal banding pattern was evident on the distal short arm of one copy of chromosome 2. Microarray analysis of the DNA sample from our patient has shown deletion of chromosome Y between Yp11.2 and Yq12, encompassing 74 BAC clones. These deletions are estimated to be between 2.69-3.08 Mb and 51.5-52.2 Mb in size ...