## Abstract We report on molecular studies in 7 patients with Wolf‐Hirschhorn syndrome (WHC) not showing an obvious chromosome 4p deletion. Analysis of a set of polymorphic probes mapping in the 4p16.3 region showed the absence of paternal haplotypes in 5 cases, and maternal haplotypes in 2. These
Partial deletion of 4p16 band in a ring chromosome and wolf syndrome
✍ Scribed by J. Mazo; J. A. Abrisqueta; Amalia Pérez-Castillo; V. Aller; M. Angeles Martín Lucas; M. Luisa Torres; M. José Martín
- Publisher
- Springer
- Year
- 1978
- Tongue
- English
- Weight
- 162 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
A new case of ring chromosome 4 in a 2-day-old female child with multiple malformations is described. By means of the GTG-banding technique, a karyotype 46,XX,r(4), (p16 leads to q35) was determined. The characteristics of the child's karyotype and the relationship with the structure of the chromosome, especially the location of the deletion that produces the syndrome, are compared with previous reports.
📜 SIMILAR VOLUMES
Chromosome imbalance affecting the short arm of chromosome 4 results in a variety of distinct clinical conditions. Most of them share a number of manifestations, such as mental retardation, microcephaly, pre-and post-natal growth retardation, anteverted and low-set ears, that can be considered as 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.