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Interstitial deletion of the proximal short arm of chromosome 4 has rarely been described. This defect is associated with variable clinical manifestations, including mental retardation, unusual facial appearance, and minor limb abnormalities. We describe a girl diagnosed with moderate mental retardation and seizures with an interstitial deletion of...
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... had an emotionless face and some degree of motor incoordination. Standard chromosome analysis revealed the karyotype 46,XX,del (4)(p12p15.2) (Figure 1), and this was confirmed with array CGH analysis ( Figure 2). The reverse transcrip- tase polymerase chain reaction was amplified with primers for the mRNA expressions on b-actin (as a control) and GABRB1 genes. ...
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... Two distinct phenotypes have been associated with deletions on chromosome 4p: Wolf-Hirschhorn syndrome (WHS; OMIM 194190)-terminal deletion [1], which is characterized by significant growth and severe intellectual disability, seizures, specific facial deformities (Greek warrior helmet appearance), and multiple congenital anomalies; and proximal interstitial deletions (4p11-p16) which have been rarely reported and may have distinct mild to moderate intellectual disability, multiple dysmorphic features including long face, upslanted palpebral fissures with epicanthal folds, tall thin body habitus, and hyperextensible joints [2][3][4][5][6][7][8][9][10][11][12][13][14][15]. The phenotypic manifestation of proximal 4p deletion syndrome is generally less severe than that of WHS but is not well-known among healthcare professionals and confers a broad spectrum of congenital abnormalities. ...
Chromosome 4p deletions can lead to two distinct phenotypic outcomes: Wolf-–Hirschhorn syndrome (a terminal deletion at 4p16.3) and less frequently reported proximal interstitial deletions (4p11-p16). Proximal 4p interstitial deletions can result in mild to moderate intellectual disability, facial dysmorphisms, and a tall thin body habitus. To date, only 35 cases of proximal 4p interstitial deletions have been reported, and only two of these cases have been familial. The critical region for this syndrome has been narrowed down to 4p15.33-15.2, but the underlying causative genes remain unclear. In this study, we report the case of a 3-year-old female with failure to thrive, developmental and motor delays, and morphological features. The mother also had a 4p15.2-p14 deletion, and the proband was found to have a 13.4-Mb 4p15.2-p14 deletion by chromosome microarray analysis. The deleted region encompasses 16 genes, five of which have a high likelihood of contributing to the phenotype: PPARGC1A, DHX15, RBPJ, STIM2, and PCDH7. These findings suggest that multiple genes are involved in this rare proximal 4p interstitial deletion syndrome. This case highlights the need for healthcare providers to be aware of proximal 4p interstitial deletions and the potential phenotypic manifestations.
... However, more proximal interstitial deletions of 4p involving 4p16.1-p14 have shown a distinct phenotype different from the classical WHS phenotype with mild to moderate intellectual disability and common dysmorphic features such as long face, up-slanting palpebral fissures, epicanthic folds, large lax lips, tall thin body figure, irregular teeth, pectus excavatum, genu valga and hyperextensible joints (Alesi et al., 2011;Bailey et al., 2010;Basinko et al., 2008;Chitayat et al., 1995;Davies et al., 1990;Estabrooks et al., 1993;Francke et al., 1977;Fryns, 1995;Fryns et al., 1989;Gawlik-Kuklinska et al., 2008;Innes et al., 1999;Ishikawa et al., 1990;Jabs et al., 1991;Kozma et al., 1999;Møller et al., 2007;Piovani et al., 2006;Ray et al., 1984;Romain et al., 1985;South et al., 2005;Su et al., 2011;Tonk et al., 2003;Van de Graaf et al., 1997;White et al., 1995;Wu et al., 2008). ...
