PMID- 22903861
OWN - NLM
STAT- MEDLINE
DCOM- 20130219
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 158A
IP  - 10
DP  - 2012 Oct
TI  - Maternal intrachromosomal insertional translocation leads to recurrent 
      1q21.3q23.3 deletion in two siblings.
PG  - 2591-601
LID - 10.1002/ajmg.a.35563 [doi]
AB  - We identified a novel 6.33 Mb deletion of 1q21.3q23.3 (hg18; chr1: 
      153035245-159367106) in two siblings presenting with blepharophimosis, ptosis, 
      microbrachycephaly, severe psychomotor, and intellectual disability. Additional 
      common features include small corpus callosum, normal birth length and head 
      circumference, postnatal growth restriction, low anterior hairline, upturned 
      nose, bilateral preauricular pits, widely spaced teeth, gingival hypertrophy, 
      left ventricular dilatation with decreased biventricular systolic function, 
      delayed bone age, 5th finger clinodactyly, short 3rd digit, hyperconvex nails, 
      obstructive and central sleep apnea, and bilateral heel contractures. 
      Fluorescence in situ hybridization (FISH) performed in the mother of both 
      children showed an apparently balanced, intrachromosomal insertional 
      translocation of 1q21.3q23.3 to 1q42.12. The sibling recurrence likely arose by a 
      maternal meiotic crossing over on the rearranged chromosome 1 between the deleted 
      region and the insertion. We hypothesize that the decreased cardiac function and 
      contractures may be related to LMNA haploinsufficiency. This case illustrates the 
      importance of FISH when attempting to determine inheritance of a copy-number 
      variation and emphasize the value of evaluating known haploinsufficiency 
      phenotypes for genes in deleted regions.
CI  - Copyright (c) 2012 Wiley Periodicals, Inc.
FAU - Quinonez, Shane C
AU  - Quinonez SC
AD  - Division of Genetics, Department of Pediatrics, University of Michigan, Ann 
      Arbor, USA.
FAU - Hedera, Peter
AU  - Hedera P
FAU - Barr, Mason
AU  - Barr M
FAU - Ackley, Todd
AU  - Ackley T
FAU - Lam, Cindy
AU  - Lam C
FAU - Purkayastha, Anjali
AU  - Purkayastha A
FAU - Glover, Thomas W
AU  - Glover TW
FAU - Innis, Jeffrey W
AU  - Innis JW
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20120817
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - Blepharophimosis syndrome Ohdo type
SB  - IM
MH  - Abnormalities, Multiple/genetics/pathology
MH  - Adolescent
MH  - Blepharophimosis/genetics/pathology
MH  - Blepharoptosis/genetics/pathology
MH  - Child
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Developmental Disabilities/genetics/pathology
MH  - Female
MH  - Heart Defects, Congenital/genetics/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/genetics/pathology
MH  - Male
MH  - Mutagenesis, Insertional
MH  - *Siblings
MH  - *Translocation, Genetic
EDAT- 2012/08/21 06:00
MHDA- 2013/02/21 06:00
CRDT- 2012/08/21 06:00
PHST- 2012/05/09 00:00 [received]
PHST- 2012/06/17 00:00 [accepted]
PHST- 2012/08/21 06:00 [entrez]
PHST- 2012/08/21 06:00 [pubmed]
PHST- 2013/02/21 06:00 [medline]
AID - 10.1002/ajmg.a.35563 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2012 Oct;158A(10):2591-601. doi: 10.1002/ajmg.a.35563. Epub 
      2012 Aug 17.