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Newborn with malformations and a combined duplication of 9pter‐q22 and 16q22‐qter resulting from unbalanced segregation of a complex maternal translocation
Author(s) -
Piram Adriana,
Ortolan Daniela,
Cesar Peres Luis,
Monteiro PinaNeto João,
Riegel Mariluce,
Schinzel Albert
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10004
Subject(s) - gene duplication , chromosomal translocation , microcephaly , hypoplasia , data deduplication , anatomy , medicine , biology , genetics , computer science , computer security , gene
We report a patient with duplication of 9pter‐q22 combined with duplication of 16q22‐qter. The chromosome anomaly was the result of a 3:1 segregation of a maternal translocation (46,XX,t[9;16;21]). This newborn had intrauterine growth retardation and microcephaly, the characteristic recognizable pattern of trisomy 9p, cerebellar hypoplasia, a porencephalic cyst in the parieto‐occipital region, and rocker‐bottom feet. We compare the clinical features with another previously described case of duplication of an identical 9p segment combined with distal 16q duplication of a similar, but not identical segment, as well as with cases with duplication of either one of the two segments. © 2003 Wiley‐Liss, Inc.