Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies

Balci S., Engiz O., Aktas D., Vargel I., Beksac M., Mrasek K., ...More

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.140A, no.6, pp.628-632, 2006 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 140A Issue: 6
  • Publication Date: 2006
  • Doi Number: 10.1002/ajmg.a.31131
  • Journal Name: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.628-632
  • Keywords: ring chromosome 4, Wolf-Hirschhorn syndrome (WHS), r(4)(:: p16.3 -> q34.3 similar to 35.1 ::), iris coloboma, cleft lip and palate, hypospadias and double urethral orifices, midgut malrotation, corpus callosum hypoplasia, multicolor banding (MCB), CGH analysis of chromosome 4, PHENOTYPE, MOSAICISM, DELETIONS, SIGNS
  • Ankara University Affiliated: No

Abstract

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)(::p 16.3 -> q34.3 similar to 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. (c) 2006 Wiley-Liss, Inc.