Kutay Taysi

Partial duplication of the long arm of chromosome 5: A case due to balanced paternal translocation and review of the literature

SummaryA partial duplication of the distal segment of the long arm of chromosome 5 (q31→qter) was observed in an infant with congenital malformations and dysmorphic features. The phenotypically normal father had a balanced translocation between the long arm of chromosome 5 and the short arm of chromosome 9: 46,XY,t(5;9)(q31;p24).The clinical and cytogenetic data obtained from six patients with partial duplications of two different long arm segments of chromosome 5 suggest that partial duplication of the distal long arm of chromosome 5 is associated with microcephaly, hypertelorism, epicanthus, strabismus, large upper lip, low-set, dysplastic ears, in addition to growth and psychomotor retardation. Partial duplication of the proximal part of the long arm of chromosome 5, on the other hand, is associated mainly with musculoskeletal abnormalities including muscle hypotrophy and hypotonia, scoliosis, lordosis, pectus carinatum, cubitus valgus, and genu valgum, in addition to psychomotor retardation. The dysmorphic features in this latter group include a bulging forehead, short nose, thick upper lip, low-set protruding ears and tapering, thin fingers.

Presumptive long arm deletion of chromosome 8: a new syndrome?

SummaryThis communication describes an infant with growth and psychomotor retardation and severe congenital malformations, who was found to have an interstitial deletion of the long arm of chromosome 8: 46,XY,del(8) (q13q22). Comparison with the only other previously reported patient with a deletion of a similar chromosomal segment suggested that deletion of the long arm of chromosome 8 may constitute a clinically recognizable syndrome.

Partial trisomy of chromosome no. 1 in two adult brothers due to maternal translocation (1q-;6p+)

SummaryExtra chromosome material on the short arm of chromosome no. 6 (46,XY,6p+) was found in two mentally retarded adult half-brothers with mildly dysmorphic features. The phenotypically normal mother had a balanced translocation between the long arm of chromosome no. 1 and the short arm of chromosome no. 6: 46,XX,t(1;6)(q32;p25). Thus the two affected brothers were trisomic for the long arm segment of chromosome no. 1, distal to q32. These patients, with mildly dysmorphic features and mental retardation, represent the first cases of partial trisomy 1q surviving to adulthood.The clinical and cytogenetic data obtained from eight individuals with partial trisomies for different long arm segments of chromosome no. 1 suggest that partial trisomy of the distal two-thirds of the long arm is characterized by severe malformations, growth retardation, and early death. Conversely, partial trisomy for the distal one-third of the long arm is associated with milder malformations and longer survival time as well as growth and mental retardation.

Hyperphalangy and clinodactyly of the index finger with Pierre Robin anomaly: Catel-Manzke syndrome. A case report and review of the literature

Mandibular hypoplasia, glossoptosis, U‐shaped cleft palate (Pierre Robin anomaly), associated with bilateral index finger malformation and congenital heart disease are described in a male, newborn infant. Review of the features of seven previously published patients, in addition to the patient reported here, confirms the existence of a distinct dysmorphogenesis syndrome. Although all of these eight patients have been males, and most were sporadic, the etiology of this rare malformation syndrome is unknown.

Partial trisomy for the short arm of chromosome 2 due to familial balanced translocation

SummaryA partial trisomy for the short arm of chromosome 2 (p21→pter) was observed in a severely retarded infant with facial, skeletal, genital, renal, and CNS anomalies. The phenotypically normal mother and older brother had a balanced translocation between the short arm of chromosome 2 and the long arm of chromosome 14: 46,XX-XY,t(2;14)(p21;q32).

Partial trisomy 13 as a result of de novo (6p;13q) translocation

SummaryA newborn infant with the clinical features of the Patau syndrome was found to have excess chromosome 13 material present as a tandem translocation involving the short arm of chromosome 6 and the long arm of an extra chromosome 13: 46,XY,t(6;13)(p24;q12). The major part of the long arm of the extra chromosome 13 was attached linearly (tandem translocation) to the short arm of chromosome 6. Both parents were phenotypically and karyotypically normal.

Concordant congenital malformations in twins with inherited translocation: t(9p--;13q+).

SummarySeveral members of a family with a translocation between the short arm of chromosome 9 and the long arm of chromosome 13 (9p-;13q+) are presented. Although the translocation found in various members of the family looked alike and appeared to be balanced, the clinical features were different. The like-sex twins displayed some features of 9p monosomy syndrome, whereas their mother and maternal grandmother, who apparently had the same translocation, showed only a few features of 9p- syndrome in addition to mild mental retardation. We suggest that a minute deletion of the short arm of chromosome 9 may cause features of 9p- syndrome and that the clinical features of this syndrome in older individuals may be too mild for the clinical diagnosis to be possible.