Biomedical subjects
Publications and source records attributed to M L Begleiter.
We report 2 brothers with holoprosencephaly, endocrine dysgenesis, and micropenis. This combination has been reported once previously in sibs (2 sisters) by Hintz et al (1968). In that case, autosomal recessive inheritance may have been the cause. The same may be true in our patients, but X-linked recessive inheritance is not excluded.
We report a four-generation kindred with a balanced 13q14q Robertsonian translocation. The proband had the Down sydrome, due to trisomy of chromosome 21; he also carried the balanced D-group translocation. S segregation analysis of 86 sibships was performed to examine the risk of t(13q14q) carrier parents having trisomy 21, 47,XXY, or trisomy 13 children by which a number of families were ascertained. None of these disorders recurred after birth of the propositi. The frequency of abortions was not different from that of the general population. The conditional segregation ratio for balanced translocation carriers among the phenotypically normal offspring of carrier parents was 0.55 +/- 0.04.
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A small-for-dates male infant with mental retardation, microcephaly, malformed ears, preauricular sinuses, epicanthal folds, micrognathia, congenital heart diseases, micropenis, and micropolygyria of the parietal and occipital lobes of the cerebral cortex was shown to have a 47,XY,+22 karyotype by trypsin-giemsa banding. Review of reported cases confirms that there may be distinctive trisomy 22 syndrome.
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