Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature.
We report on two boys and a girl with interstitial deletion in the short arm of chromosome 4 including the segment p15.2p15.33. All had normal growth with psychomotor retardation, multiple minor congenital anomalies, and a characteristic face distinct from that of the Wolf-Hirschhorn syndrome. One of the patients had congenitally enlarged penis. These patients resemble some of the previously reported patients with similar cytogenetic abnormalities and suggests the recognition of a specific clinical chromosome deletion syndrome.
Chitayat
D
D
Hospital for Sick Children, Toronto, Ontario, Canada.
Ruvalcaba
R H
RH
Babul
R
R
Teshima
I E
IE
Posnick
J C
JC
Vekemans
M J
MJ
Scarpelli
H
H
Thuline
H
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D013577:Syndrome