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9q34.3 deletion syndrome in three unrelated children
Author(s) -
Iwakoshi Mie,
Okamoto Nobuhiko,
Harada Naoki,
Nakamura Tsuyoshi,
Yamamori Shunji,
Fujita Hiroko,
Niikawa Norio,
Matsumoto Naomichi
Publication year - 2004
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.20602
Subject(s) - hypertelorism , microcephaly , monosomy , trisomy , hypospadias , chromosomal translocation , chin , biology , genetics , anatomy , medicine , dermatology , pediatrics , karyotype , chromosome , gene
We described three unrelated children with cryptic 9q34.3 rearrangements and similar clinical manifestations: two with 9q34.3 terminal deletions and the other with an unbalanced translocation involving 9q34.3‐qter monosomy and 6p25‐pter trisomy. Common features among the three we studied and the other six patients with 9q34.3 deletions in the literature include microcephaly, mental retardation (MR), hypotonic, and epileptic seizures. Their facial characteristics included flat face, arched eyebrows, synophrys, hypertelorism, short nose, anteverted nostrils, carp mouth, protruding tongue, micrognathia, and pointed chin. Other frequent abnormalities were cardiac abnormalities, cryptorchidism or hypospadias, and abnormal toes. These findings are characteristic enough to be a clinically recognizable syndrome. © 2004 Wiley‐Liss, Inc.