PMID- 16470698
OWN - NLM
STAT- MEDLINE
DCOM- 20060530
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 140
IP  - 6
DP  - 2006 Mar 15
TI  - Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple 
      anomalies.
PG  - 628-32
AB  - We report on a 16-month-old male patient with ring chromosome 4 and deletion of 
      Wolf-Hirschhorn syndrome (WHS) region with multiple congenital anomalies 
      including unilateral cleft lip and palate, iris coloboma, microcephaly, midgut 
      malrotation, hypospadias, and double urethral orifices. Peripheral chromosome 
      analysis of the patient showed 46,XY,r(4)(p16.3q35) de novo. Multicolor 
      fluorescence in situ hybridization (FISH) study was also performed and according 
      to multicolor banding (MCB) a r(4)(::p16.3 --> q34.3 approximately 35.1::) was 
      found in all metaphases. Subtelomeric 4p region, subtelomeric 4q region, as well 
      as, Wolf-Hirschhorn critical region were deleted in ring chromosome 4. Genomic 
      microarray analysis was also performed to delineate the size of deletion. Cranial 
      magnetic resonance imaging (MRI) showed hypoplastic corpus callosum, delayed 
      myelinization, and frontal and occipital lobe atrophies. Both maternal and 
      paternal chromosomal analyses were normal. We compare the phenotypic appearance 
      of our patient with the previously reported 16 cases of ring chromosome 4 in the 
      medical literature.
CI  - 2006 Wiley-Liss, Inc.
FAU - Balci, Sevim
AU  - Balci S
AD  - Department of Clinical Genetics, Hacettepe University Faculty of Medicine, Ihsan 
      Dogramaci Children's Hospital, Ankara, Turkey. sbalci@hacettepe.edu.tr
FAU - Engiz, Ozlem
AU  - Engiz O
FAU - Aktas, Dilek
AU  - Aktas D
FAU - Vargel, Ibrahim
AU  - Vargel I
FAU - Beksac, M S
AU  - Beksac MS
FAU - Mrasek, Kristin
AU  - Mrasek K
FAU - Vermeesch, Joris
AU  - Vermeesch J
FAU - Liehr, Thomas
AU  - Liehr T
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 4/*genetics
MH  - Cleft Lip/pathology
MH  - Cleft Palate/pathology
MH  - Coloboma/pathology
MH  - *Craniofacial Abnormalities
MH  - Growth Disorders/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Intellectual Disability/*pathology
MH  - Karyotyping
MH  - Male
MH  - Microcephaly/pathology
MH  - *Ring Chromosomes
MH  - Syndrome
EDAT- 2006/02/14 09:00
MHDA- 2006/05/31 09:00
CRDT- 2006/02/14 09:00
PHST- 2006/02/14 09:00 [pubmed]
PHST- 2006/05/31 09:00 [medline]
PHST- 2006/02/14 09:00 [entrez]
AID - 10.1002/ajmg.a.31131 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2006 Mar 15;140(6):628-32. doi: 10.1002/ajmg.a.31131.