Biomedical subjects
Publications and source records attributed to S Schmerler.
We report on a 4-year-old girl with Sotos phenotype and a de novo balanced translocation between the long arms of chromosome 5 and chromosome 15 [46,XX,t(5,15)(q35;q22)]. We suggest a relationship between genetic material at 5q35 or 15q22 and the expression of an autosomal dominant gene.
We present an infant with true trisomy 22. Mosaicism is ruled out by the finding of a 47,XX, +22 karyotype in all cells analysed originating from two embryonic germ layers. The physical findings are consistent with the previously noted features including developmental delay, ear abnormalities, micrognathia, clefting, and congenital heart disease. The patient is the first described with macrocephaly and hydrocephalus and the second with holoprosencephaly.
We report on the 12-year development of a child with branchio-oculo-facial syndrome who was initially referred at age 5 months. Of note is his normal intelligence, regular class placement, hypernasal speech, and continued growth along the third centile. The importance of serial observations of patients with rare genetic disorders is emphasized.
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Thirty-one genetic amniocenteses involving multiple gestations were performed in the genetics unit between 1976 and 1982. Three sets of triplets were included. Precise locations of the sacs were determined using real-time ultrasonography and successful sampling of all sacs was accomplished. Spontaneous abortions occurred in two normal twins and one normal triplet gestation. Two therapeutic abortions were performed for fetal abnormalities. Two cases of discordance for trisomy 21 (one twin and one triplet) were allowed to continue; the twin case terminated at 25 weeks' gestation with neonatal deaths and the triplets are alive and well.
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