PMID- 16080295
OWN - NLM
STAT- MEDLINE
DCOM- 20060111
LR  - 20131121
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 16
IP  - 2
DP  - 2005
TI  - A case with de novo interstitial deletion of chromosome 7q21.1-q22.
PG  - 155-9
AB  - A case with de novo interstitial deletion of chromosome 7q21.1-q22: A patient 
      with multiple congenital anomalies was found to have a de novo proximal 
      interstitial deletion of chromosome 7q21.1-q22. The patient was 10.5 years of 
      age, and manifestations include growth retardation (below 3rd percentile), mental 
      retardation, mild microcephaly, hypersensitivity to noise, mild spasticity, short 
      palpebral fissures, alternant exotropia, compensated hypermetropic astigmatism, 
      hypotelorism, hypoplastic labia majora and minora, clinodactyly of fingers 4 and 
      5. Molecular studies revealed that the deletion had a paternal origin, while 
      chromosomes of both parents cytogenetically were shown to be normal. Molecular, 
      and fluorescence in situ hybridization (FISH) analyses confirmed no deletion at 
      the Williams-Beuren Syndrome region. Some of the heterogeneous clinical findings 
      were consistent with previously reported cases of same chromosomal breakpoints.
FAU - Manguoglu, E
AU  - Manguoglu E
AD  - Akdeniz University, Faculty of Medicine, Department of Medical Biology and 
      Genetics, 07070, Antalya, Turkey.
FAU - Berker-Karauzum, S
AU  - Berker-Karauzum S
FAU - Baumer, A
AU  - Baumer A
FAU - Mihci, E
AU  - Mihci E
FAU - Tacoy, S
AU  - Tacoy S
FAU - Luleci, G
AU  - Luleci G
FAU - Schinzel, A
AU  - Schinzel A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
RN  - H789N3FKE8 (Baclofen)
SB  - IM
MH  - Abnormalities, Multiple/diagnosis/*genetics
MH  - Baclofen
MH  - Child
MH  - Chromosome Breakage
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Developmental Disabilities/diagnosis/*genetics
MH  - Female
MH  - Genitalia, Female/*abnormalities
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
EDAT- 2005/08/06 09:00
MHDA- 2006/01/13 09:00
CRDT- 2005/08/06 09:00
PHST- 2005/08/06 09:00 [pubmed]
PHST- 2006/01/13 09:00 [medline]
PHST- 2005/08/06 09:00 [entrez]
PST - ppublish
SO  - Genet Couns. 2005;16(2):155-9.