X-linked mental retardation, microcephaly, and growth delay associated with hereditary bullous dystrophy macular type: report of a second family.

We report on 2 patients with mental retardation and bullous dystrophy, macular type. The observation of the condition in a male and his maternal uncle is consistent with recessive X-linkage. Due to the rarity of the condition, nosologic definition was difficult before the birth of the propositus. The clinical picture in the two patients described, characterized by mental retardation, dwarfism, microcephaly, alopecia, bullous dystrophy macular type, hypogenitalism, is very much like the one observed in the patients, all males, belonging to the only other family reported to date. The recent localization of the bullous dystrophy gene in the Xq24-qter segment opens the possibility of prenatal diagnosis.

Lethal short rib syndrome of the Beemer type without polydactyly.

A new case of Beemer short-rib dwarfism is reported and the clinical and radiological differences between this and Majewski type are discussed. The clinical variability related to the lack or presence of polydactyly is underlined, together with the importance of prenatal diagnosis.

[Spondylo-costal dysostosis: presentation of a new case with autosomal dominant heredity and discussion of problems in genetic counseling]. / Disostosi spondilo-costale: presentazione di un nuovo caso ad ereditarietà autosomica dominante e discussione delle problematiche della consulenza genetica.

The Authors report a new family with spondylo-costal dysplasia in which three members in three generation are affected. The genetic heterogeneity of the condition and its implication in genetic counseling is discussed.

Hypomelanosis of Ito associated with chromosomal translocation involving Xp11.

We report on a 3-year-old girl with hypomelanosis of Ito (HI). She has typical skin lesions and mild CNS involvement characterized by impaired walking and borderline mental retardation. Cytogenetic investigation showed a 18/X translocation with breakpoint on Xp11. This is the sixth case of HI in which this breakpoint has been reported, underlining that this event cannot be considered coincidental. Further studies are needed to understand the etiologic and pathogenetic meaning of this finding.

Acrocallosal syndrome: a new case.

We describe a 2-month-old infant girl with typical clinical manifestations of the acrocallosal syndrome: characteristic face, agenesis of corpus callosum, polydactyly associated with other anomalies of the extremities, and mental retardation. The importance of a correct nosology and genetic counseling is underlined on the basis of the description of familiar cases of the syndrome.

Multiple congenital anomalies associated with apparently normal maternal intake of vitamin A: a phenocopy of the isotretinoin syndrome?

The teratogenicity of vitamin A has been repeatedly reported in the literature and confirmed on the basis of several cases of adverse pregnancy outcome associated with maternal isotretinoin exposure. We report a case which shows a striking similarity with this syndrome, but the child was born to a mother who took a normal supplementation of vitamin A during pregnancy. The differential diagnosis is discussed.

Lymphocyte surface phenotypes in Down's syndrome.

The lymphocyte surface phenotypes in the blood of 7 non-institutionalized adults with trisomy-21, and in 10 karyotypically normal control subjects, were analysed by fluorescent microscopy with an OKT series of monoclonal antibodies. Whereas the proportions of OKT3+, OKT4+ and OKT6+ cells were similar in the two groups, the percentages of both OKT8+ and OKT10+ trisomic lymphocytes were significantly higher. The biological implications of these findings with respect to the underlying immunopathology of Down's syndrome are discussed.

De novo duplication 1q32-q42: variability of phenotypic features in partial lq trisomics.

A de novo tandem duplication 1q32--q42 was observed in a 7-month-old mentally retarded and malformed male infant. Karyotype-phenotype correlation in other similar unbalanced trisomies has shown psychomotor retardation, micro- or retrognathia or both, and low set or malpositioned ears to be the most common features associated with this newly recognised syndrome. However, after reviewing patients with duplication of regions 1q2, 3, and 4 and 1q2 and 3, it was concluded that similar non-specific clinical features are also present in these 1q imbalances. On the whole, a rather wide range in phenotypical expression has been observed in different cases. Thus it is concluded that, at present, it is impossible to delineate the profile of the syndromes resulting from partial 1q trisomies.

Evidence for the assignment of GUK 1 gene locus to 1q32 leads to q43 segment from gene dosage effect.

A male infant with dup (1) (q32 leads to q43) constitution is reported. He had mental and physical retardation and a constellation of dysmorphisms, which are considered characteristic of trisomics for the distal one-third of the long arm of chromosome 1. The assay for guanylate kinase 1 (GUK 1) activity showed a gene dosage effect and confirmed the regional assignment of this marker in the chromosomal region indicated by data derived from somatic hybrids.

Chromosome 13 deletion syndrome: report of a new case and discussion of the different etiologic patterns of retinoblastoma.

A partial monosomy 13 by interstitial deletion was found in the complement of a patient with mental retardation and mild dysmorphic features. Due to the involvement of band q14 in the deletion, an ocular investigation was performed which showed the presence of a retinoblastoma in a preclinical stage. The different patterns of retinoblastoma inheritance are discussed and the importance of an accurate clinical investigation is stressed in all cases in whom chromosomal aberration is known to be associated with neoplasias.