Premium
A girl with duplication 9q34 syndrome
Author(s) -
GawlikKuklinska Katarzyna,
Iliszko Mariola,
Wozniak Agnieszka,
DebiecRychter Maria,
Kardas Iwona,
Wierzba Jolanta,
Limon Janusz
Publication year - 2007
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.31847
Subject(s) - gene duplication , girl , dup , secondary sex characteristic , psychomotor learning , presentation (obstetrics) , pediatrics , amenorrhea , medicine , psychology , developmental psychology , psychiatry , genetics , surgery , biology , pregnancy , cognition , gene , hormone
We report on a 17‐year‐old female with numerous developmental abnormalities associated with 46,XX,dup(9)(q33.3q34.1), where the duplication occurred de novo. The patient presented with dysmorphic features and notable psychomotor delays, manifestations similar to those described in other reported cases of duplication of 9q34‐qter. Due to late presentation and diagnosis, our patient was not evaluated and characterized until adolescence, when particular attention was paid to the development of secondary sexual characteristics, secondary amenorrhea and obesity. © 2007 Wiley‐Liss, Inc.