Duplication 10p in a girl due to a maternal translocation t(10;14) (p11:p12)

✍ Scribed by Gonzalez, Claudette H. ;Billerbeck, Ana Elisa C. ;Takayama, Luiza C. ;Wajntal, Anita ;Opitz, John M.

• Publisher: John Wiley and Sons
• Year: 1983
• Tongue: English
• Weight: 547 KB
• Volume: 14
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320140122

✦ Synopsis

We present a dup (lop) due to a t(10;14) (pll;pl2)mat with a malformation syndrome in a girl. The analysis of 37 published cases shows that 31 patients (16 D ; 15 Q ) had either a mother or a father carrying a balanced translocation; one case was due to a paternal and another due to a maternal pericentric inversion; two cases were due to de novo translocations; one case had a partial duplication of 1Op; and one case had a supernumerary ring chromosome composed of lop material.

The phenotypic spectrum of the condition was analyzed. It is a specific multiple congenital anomalieslmental retardation (MCAIMR) syndrome which includes characteristic facial appearance (dolichocephaly, frontal bossing, short nose with a broad root, highly arched and upswept eyebrows, long philtrum, and thin lips), postnatal growth retardation, severe mental and psychomotor retardation, and several major and minor anomalies. Pseudohermaphroditism seems to be an important anomaly being present in 15 to 20% of affected males. A hypothenar crease together with a transverse crease forming a "crease triangle" seems a helpful sign in the clinical diagnosis of duplication lop.