PMID- 11846734
OWN - NLM
STAT- MEDLINE
DCOM- 20020402
LR  - 20211018
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 60
IP  - 6
DP  - 2001 Dec
TI  - A family with a grand-maternally derived interstitial duplication of proximal 
      15q.
PG  - 421-30
AB  - About 1% of individuals with autism or types of pervasive developmental disorder 
      have a duplication of the 15q11-q13 region. These abnormalities can be detected 
      by routine G-banded chromosome study, showing an extra marker chromosome, or 
      demonstrated by fluorescence in situ hybridization (FISH) analysis, revealing an 
      interstitial duplication. We report here the molecular, cytogenetic, clinical and 
      neuropsychiatric evaluations of a family in whom 3 of 4 siblings inherited an 
      interstitial duplication of 15q11-q13. This duplication was inherited from their 
      mother who also had a maternally derived duplication. Affected family members had 
      apraxia of speech, phonological awareness deficits, developmental language 
      disorder, dyslexia, as well as limb apraxia but did not have any dysmorphic 
      clinical features. The observations in this family suggest that the phenotypic 
      manifestations of proximal 15q duplications may also involve language-based 
      learning disabilities.
FAU - Boyar, F Z
AU  - Boyar FZ
AD  - Raymond C. Philips Unit, Division of Pediatric Genetics, Department of Pediatrics 
      and Center for Mammalian Genetics, University of Florida College of Medicine, 
      Gainesville 32610-0296, USA.
FAU - Whitney, M M
AU  - Whitney MM
FAU - Lossie, A C
AU  - Lossie AC
FAU - Gray, B A
AU  - Gray BA
FAU - Keller, K L
AU  - Keller KL
FAU - Stalker, H J
AU  - Stalker HJ
FAU - Zori, R T
AU  - Zori RT
FAU - Geffken, G
AU  - Geffken G
FAU - Mutch, J
AU  - Mutch J
FAU - Edge, P J
AU  - Edge PJ
FAU - Voeller, K S
AU  - Voeller KS
FAU - Williams, C A
AU  - Williams CA
FAU - Driscoll, D J
AU  - Driscoll DJ
LA  - eng
GR  - K24 HDO1361/HD/NICHD NIH HHS/United States
GR  - R01HD31491/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Adult
MH  - Apraxias/diagnosis/genetics
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Disorders/diagnosis/*genetics
MH  - *Chromosomes, Human, Pair 15
MH  - *Gene Duplication
MH  - Genomic Imprinting
MH  - Humans
MH  - Language Development Disorders/diagnosis/genetics
MH  - Learning Disabilities/diagnosis/genetics
MH  - Male
MH  - Pedigree
EDAT- 2002/02/16 10:00
MHDA- 2002/04/03 10:01
CRDT- 2002/02/16 10:00
PHST- 2002/02/16 10:00 [pubmed]
PHST- 2002/04/03 10:01 [medline]
PHST- 2002/02/16 10:00 [entrez]
AID - 600604 [pii]
AID - 10.1034/j.1399-0004.2001.600604.x [doi]
PST - ppublish
SO  - Clin Genet. 2001 Dec;60(6):421-30. doi: 10.1034/j.1399-0004.2001.600604.x.