TY - JOUR
T1 - Congenital diaphragmatic hernia with a pure duplication of chromosome 1q
T2 - Report of the first surviving case
AU - Otake, Kohei
AU - Uchida, Keiichi
AU - Inoue, Mikihiro
AU - Koike, Yuhki
AU - Matsushita, Kohei
AU - Miki, Chikao
AU - Sugiyama, Takashi
AU - Kusunoki, Masato
PY - 2009/9
Y1 - 2009/9
N2 - Congenital diaphragmatic hernia (CDH) occurs in multiple malformation syndromes and associations, and has been associated with cytogenetic aberrations on almost every chromosome arm. However, CDH with a duplication of chromosome 1q is very rare in the literature, and all previously reported cases with detailed clinical courses died soon after birth. We present the first surviving case of CDH with a duplication of 1q12-q23, who had arthrogryposis multiplex congenita and hypertrophic cardiomyopathy. CDH patients with a proximal duplication of chromosome 1q may have a chance for survival, and CDH with a duplication of chromosome 1q is not necessarily a lethal association.
AB - Congenital diaphragmatic hernia (CDH) occurs in multiple malformation syndromes and associations, and has been associated with cytogenetic aberrations on almost every chromosome arm. However, CDH with a duplication of chromosome 1q is very rare in the literature, and all previously reported cases with detailed clinical courses died soon after birth. We present the first surviving case of CDH with a duplication of 1q12-q23, who had arthrogryposis multiplex congenita and hypertrophic cardiomyopathy. CDH patients with a proximal duplication of chromosome 1q may have a chance for survival, and CDH with a duplication of chromosome 1q is not necessarily a lethal association.
KW - 1q duplication
KW - Chromosome abnormality
KW - Congenital diaphragmatic hernia
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U2 - 10.1007/s00383-009-2421-z
DO - 10.1007/s00383-009-2421-z
M3 - Article
C2 - 19629498
AN - SCOPUS:69549086351
SN - 0179-0358
VL - 25
SP - 827
EP - 831
JO - Pediatric Surgery International
JF - Pediatric Surgery International
IS - 9
ER -