Premium
Rare interstitial deletion 9q31.2 to q33.1 de novo: Longitudinal study in a patient over a period of more than 20 years
Author(s) -
Gamerdinger Ulrike,
Eggermann Thomas,
Schubert Regine,
Schwanitz Gesa,
KreißNachtsheim Martina
Publication year - 2008
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.32122
Subject(s) - hypotonia , growth retardation , period (music) , medicine , karyotype , genetics , pediatrics , biology , chromosome , pregnancy , gene , physics , acoustics
The female carrier of a de novo interstitial deletion 9q [karyotype 46,XX,del(9)(q31.2q33.1)] was followed up over a period of more than 20 years. She shows facial dysmorphisms and significant growth retardation. Motor abilities are restricted by muscular hypotonia and malposition of the feet. She has mental retardation. There was no speech development and phases of autism were reported. By analyses with FISH and short tandem repeat markers, the interstitial deletion was confirmed and characterized to span 9q31.2q33.1, comprising at least 7.07 Mb. The aberration is of paternal origin. © 2008 Wiley‐Liss, Inc.