PMID- 11038468
OWN - NLM
STAT- MEDLINE
DCOM- 20001228
LR  - 20190906
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 20
IP  - 10
DP  - 2000 Oct
TI  - Wolf-Hirschhorn syndrome due to a 3:1 segregation of a maternal balanced 
      t(4;15)(p16.3;q11) translocation.
PG  - 847-50
AB  - The Wolf-Hirschhorn syndrome (WHS) is characterized by severe pre- and postnatal 
      growth retardation, specific pattern of dysmorphisms, and severe developmental 
      delay. These clinical findings are the result of a deletion within the short arm 
      of chromosome 4. Most cases occur de novo and are of paternal origin. Cases due 
      to a balanced translocation are mostly of maternal origin and the deletion of 
      distal 4p, including the WHS critical region, is often combined with a 
      duplication of the other chromosomal segment involved in the rearrangement. Here, 
      we report on a newborn female infant with WHS and pure tertiary monosomy due to a 
      3:1 segregation of a balanced maternal 4;15 translocation. In this context, 
      importance of fluorescence in situ hybridization (FISH) with specific probes to 
      determine the exact breakpoints in unbalanced chromosomal rearrangements with 
      breakpoints localized around known microdeletion syndromes is emphasized.
CI  - Copyright 2000 John Wiley & Sons, Ltd.
FAU - Zimmermann-Bar, U
AU  - Zimmermann-Bar U
AD  - Clinic of Neonatology, University Hospital, Zurich, Switzerland.
FAU - Stallmach, T
AU  - Stallmach T
FAU - Riegel, M
AU  - Riegel M
FAU - Wiedemann, U
AU  - Wiedemann U
FAU - Fauchere, J C
AU  - Fauchere JC
FAU - Binkert, F
AU  - Binkert F
FAU - Kotzot, D
AU  - Kotzot D
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Abnormalities, Multiple/*diagnosis/*genetics
MH  - Adult
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 4
MH  - Fatal Outcome
MH  - Female
MH  - *Fetal Growth Retardation/diagnosis/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Pregnancy
MH  - Syndrome
EDAT- 2000/10/20 11:00
MHDA- 2001/02/28 10:01
CRDT- 2000/10/20 11:00
PHST- 2000/10/20 11:00 [pubmed]
PHST- 2001/02/28 10:01 [medline]
PHST- 2000/10/20 11:00 [entrez]
AID - 10.1002/1097-0223(200010)20:10<847::AID-PD930>3.0.CO;2-O [pii]
AID - 10.1002/1097-0223(200010)20:10<847::aid-pd930>3.0.co;2-o [doi]
PST - ppublish
SO  - Prenat Diagn. 2000 Oct;20(10):847-50. doi: 
      10.1002/1097-0223(200010)20:10<847::aid-pd930>3.0.co;2-o.