Clinical and cytogenetic data of two related patients, both trisomic for the segment 4q27 to qter, are reported. Familial studies determined that the mothers of the two probands were carriers of the same balanced translocation between chromosomes 4 and 18. Altogether, two partial trisomies 4q, five
Partial trisomy 4q in two unrelated cases
โ Scribed by Milly Andrle; A. Erlach; A. Rett
- Publisher
- Springer
- Year
- 1979
- Tongue
- English
- Weight
- 302 KB
- Volume
- 49
- Category
- Article
- ISSN
- 0340-6717
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โฆ Synopsis
Two unrelated cases of 4q trisomy are described with trisomic segment 4q25 leads to 4qter. The most conspicuous symptoms are psychomotor retardation, microcephaly, malformed ears, retrognathia, finger and toe malformations and cryptorchism in a male. Both cases are compared with 19 previously reported ones.
๐ SIMILAR VOLUMES
Partial trisomy of the long arm of chromosome 4 was observed in two related patients, a child aged 2 years and a woman aged 42. Cytogenetic investigation revealed that their chromosome anomalies were due to segregation of a familial balanced translocation t(4;18)(q27;p11). Some clinical and cytogene
This communication contributes an additional case of partial trisomy for the long arm of chromosome 4[46,XX,t(X;4)(Q27;Q25)]. Three generations of the patient's family were karyotyped and her mother and brother were found to be balanced translocation carriers. From the patient's clinical examination
We report on two sibs with facial anomalies
Partial trisomy 15 was observed in a newborn with malformations of the head and extremities. A t(5;15) translocation was found in the mother and maternal grandfather.
A genetics evaluation was requested for a 6-week-old infant with multiple congenital malformations including mild craniofacial anomalies, truncal hypotonia, hypospadias, and a ventriculoseptal defect. Blood obtained for chromosome analysis revealed an abnormal chromosome 4. Paternal chromosome analy