PMID- 1379774
OWN - NLM
STAT- MEDLINE
DCOM- 19920910
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 51
IP  - 3
DP  - 1992 Sep
TI  - Molecular definition of the smallest region of deletion overlap in the 
      Wolf-Hirschhorn syndrome.
PG  - 571-8
AB  - Wolf-Hirschhorn syndrome (WHS), associated with a deletion of chromosome 4p, is 
      characterized by mental and growth retardation and typical facial dysmorphism. A 
      girl with clinical features of WHS was found to carry a subtle deletion of 
      chromosome 4p. Initially suggested by high-resolution chromosome analysis, her 
      deletion was confirmed by fluorescence in situ hybridization (FISH) with cosmid 
      probes, E13 and Y2, of D4S113. To delineate this 4p deletion, we performed a 
      series of FISH and pulsed-field gel electrophoresis analyses by using probes from 
      4p16.3. A deletion of approximately 2.5 Mb with the breakpoint at approximately 
      80 kb distal to D4S43 was defined in this patient and appears to be the smallest 
      WHS deletion so far identified. To further refine the WHS critical region, we 
      have studied three unrelated patients with presumptive 4p deletions, two 
      resulting from unbalanced segregations of parental chromosomal translocations and 
      one resulting from an apparently de novo unbalanced translocation. Larger 
      deletions were identified in two patients with WHS. One patient who did not 
      clinically present with WHS had a smaller deletion that thus eliminates the 
      distal 100-300 kb from the telomere as being part of the WHS region. This study 
      has localized the WHS region to approximately 2 Mb between D4S43 and D4S142.
FAU - Gandelman, K Y
AU  - Gandelman KY
AD  - Department of Genetics, Yale University, New Haven, CT 06510.
FAU - Gibson, L
AU  - Gibson L
FAU - Meyn, M S
AU  - Meyn MS
FAU - Yang-Feng, T L
AU  - Yang-Feng TL
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (DNA Probes)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 4
MH  - DNA Probes/genetics
MH  - Developmental Disabilities/*genetics
MH  - Face/abnormalities
MH  - Female
MH  - Fluorescence
MH  - Humans
MH  - Intellectual Disability/*genetics
MH  - Nucleic Acid Hybridization
MH  - Syndrome
PMC - PMC1682730
EDAT- 1992/09/01 00:00
MHDA- 1992/09/01 00:01
PMCR- 1993/03/01
CRDT- 1992/09/01 00:00
PHST- 1992/09/01 00:00 [pubmed]
PHST- 1992/09/01 00:01 [medline]
PHST- 1992/09/01 00:00 [entrez]
PHST- 1993/03/01 00:00 [pmc-release]
PST - ppublish
SO  - Am J Hum Genet. 1992 Sep;51(3):571-8.