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A tandem duplication of 14q24→q32, estimated by G- and R-banding, was found in a male newborn with growth retardation and congenital malformations. His clinical picture is compared with that of three patients from the literature with partial trisomy for a similar segment of 14q due to a...
We report a Caucasian family in which four males out of a total of seven siblings are mentally retarded. Three of the affected individuals have spasticity in the lower limbs (spastic paraplegia), pes caws deformity of both feet and an abnormal gait. In addition, they show palmar and plantar...
The diagnosis of cystic fibrosis (CF) homozygotes and heterozygotes and of individuals without the CF gene, based on differences in the thermal stability of acid phosphatase and a-mannosidase, is reported. The residual activities at 36.5°C and 41.3°C were below 10% of the activity in unheated...
The Prader-Willi Syndrome (PWS) has frequently been associated with chromosomal anomalies involving the region 15q11-q12. The first case of this syndrome associated with a de novo translocation involving chromosomes 11 and 15 is reported. The breakpoints were identified as 11q25 and 15q11 or q12...
G-banded chromosome complements were analysed from both partners of 150 couples who had had two or more spontaneous abortions. Two women and four men were found to be balanced translocation carriers, as follows: 46, XX, t(2;10), 46, XX, t(6;II), 46, XY, t(6;10), 45, XY, t(13;14), 45, XY,...
An extended kindred in the Sudan, where a severe muscular dystrophy has been interpreted as of autosomal recessive inheritance, has been further analysed. The within-sibship ratio, the autosomal and X-linked inbreeding coefficients, and the creatine kinase levels suggest a possible alternative...
Thirteen patients from three unrelated families were found to have microcephaly, without any neurological or dysmorphic manifestations. Autosomal dominant inheritance is concluded since the trait was transmitted directly in all three families, including one male-to-male instance. The recognition...
A persistent eruption in light-exposed areas in two related carriers of X-linked chronic granulomatous disease is described. This eruption appears to be a separate entity, rather than a variant of cutaneous lupus erythematosus or Jessner's disease. Recognition may enable detection of carrier...
Two pairs of monozygotic twins, concordant for the Rubinstein-Taybi syndrome, are reported.
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