Open AccessPartial trisomy for the distal part of chromosome 22 (22q12→qter) in a mentally retarded girl with congenital birth defects
Author(s) -
ANNERÉN GÖRAN,
GUSTAVSON KARLHENRIK,
JAGELL STEN
Publication year - 1984
Publication title -
hereditas
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.819
H-Index - 50
eISSN - 1601-5223
pISSN - 0018-0661
DOI - 10.1111/j.1601-5223.1984.tb00112.x
Subject(s) - trisomy , girl , failure to thrive , hypotonia , mentally retarded , pediatrics , biology , anatomy , medicine , genetics , psychology , developmental psychology
A nnerén , G., G ustavson , K.‐H. and J agell , S. 1984. Partial trisomy for the distal part of chromosome 22 (22q12→qter) in a mentally retarded girl with congenital birth defects. — Hereditas 100: 115–119. Lund, Sweden. ISSN 0018–0661. Received June 1, 1983 A girl with congenital birth defects, severe mental retardation and an unbalanced translocation 46, XX,‐3,+der(3)t(3;22) (p26;q12)mat is reported. This case of distal trisomy 22q is compared with 4 other cases reported in the literature, and a possible distal trisomy 22q syndrome is discussed. This syndrome seems to have the following features: Growth retardation, failure to thrive, muscular hypotonia, congenital hydrocephaly, renal aplasia or dysplasia, cleft palate, congenital heart defect, micrognathia, long philtrum, broad nasal bridge, low‐set ears and sacral pits.