PMID- 18925681
OWN - NLM
STAT- MEDLINE
DCOM- 20081210
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 146A
IP  - 22
DP  - 2008 Nov 15
TI  - Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and 
      left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 
      1p36.
PG  - 2891-7
LID - 10.1002/ajmg.a.32556 [doi]
AB  - Monosomy 1p36 is a common subtelomeric microdeletion syndrome, characterized by 
      craniofacial dysmorphisms, developmental delay, mental retardation, hypotonia, 
      epilepsy, cardiovascular complications, and hearing impairment; deleted regions 
      have been mapped within 10.0 Mb from the telomere in most documented cases. We 
      report on a girl with a 10.5-11.1 Mb terminal deletion of 1p36 shown by 
      fluorescence in situ hybridization (FISH). She had three distinct structural 
      abnormalities: bilateral perisylvian polymicrogyria, periventricular nodular 
      heterotopia, and left ventricular noncompaction. She died in early infancy with 
      intractable epilepsy, progressive congestive heart failure and pulmonary 
      hypertension. To date, this is the first case with monosomy 1p36, complicated by 
      this combination of manifestations; she is also the first who had possibly a 
      simple terminal deletion of 1p36 and died in early infancy. An atypically large 
      deletion in this patient might be the basis for the development of these features 
      and the severe clinical course.
CI  - (c) 2008 Wiley-Liss, Inc.
FAU - Saito, Shoji
AU  - Saito S
AD  - Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, 
      Japan.
FAU - Kawamura, Rie
AU  - Kawamura R
FAU - Kosho, Tomoki
AU  - Kosho T
FAU - Shimizu, Takashi
AU  - Shimizu T
FAU - Aoyama, Koki
AU  - Aoyama K
FAU - Koike, Kenichi
AU  - Koike K
FAU - Wada, Takahito
AU  - Wada T
FAU - Matsumoto, Naomichi
AU  - Matsumoto N
FAU - Kato, Mitsuhiro
AU  - Kato M
FAU - Wakui, Keiko
AU  - Wakui K
FAU - Fukushima, Yoshimitsu
AU  - Fukushima Y
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Craniofacial Abnormalities/genetics
MH  - Fatal Outcome
MH  - Female
MH  - Heart Defects, Congenital/genetics
MH  - Heart Ventricles/*abnormalities
MH  - Humans
MH  - Infant
MH  - Malformations of Cortical Development/*genetics
MH  - Periventricular Nodular Heterotopia/*genetics
MH  - Phenotype
EDAT- 2008/10/18 09:00
MHDA- 2008/12/17 09:00
CRDT- 2008/10/18 09:00
PHST- 2008/10/18 09:00 [pubmed]
PHST- 2008/12/17 09:00 [medline]
PHST- 2008/10/18 09:00 [entrez]
AID - 10.1002/ajmg.a.32556 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2008 Nov 15;146A(22):2891-7. doi: 10.1002/ajmg.a.32556.