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Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review
Author(s) -
Puvabanditsin Surasak,
Garrow Eugene,
Brandsma Erik,
Savla Jayshree,
Kunjumon Bgee,
Gadi Inder
Publication year - 2009
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.32972
Subject(s) - hypertelorism , monosomy , partial trisomy , trisomy , microcephaly , anatomy , biology , genetics , chromosome , karyotype , gene
We report on a 15‐month‐old girl with a deletion of the distal short arm of chromosome 1p36.3, partial trisomy of the short arm of chromosome 19p13.3, growth and developmental delay, and multiple anomalies including microcephaly, bifrontal prominence, obtuse frontonasal angle, short columella, hypertelorism, sacral dimples, and a bicuspid pulmonary valve. Based on our FISH mapping studies, we estimate the size of the trisomic region of 19p.13.3 to be ∼3.17 Mb, and the region of monosomy for 1p36.3 as 1.3 Mb. This is the first report of a patient with partial trisomy 19p13.3 and partial monosomy p36.3. © 2009 Wiley‐Liss, Inc.