An extra small metacentric autosome in a mentally retarded boy with multiple malformations.
نویسندگان
چکیده
منابع مشابه
An extra small metacentric chromosome in a female child.
Three cases associating multiple congenital anomalies with a small extra metacentric chromosome have been reported by Fr0land, Holst, and Terelev (I963), Gustavson, Atkins, and Patricks (I964), and Taft, Dodge, and Atkins (I965). All three occurred in boys. Because this occurred in male patients only, the possibility that this extra small chromosome was associated with the X chromosome could no...
متن کاملPartial Deletion of the Short Arms of a Chromosome of the 4-5 Group (denver).
Whereas in manjjfjspossible in the presence of an extra autosome (though not without considerable defects), absence of an autosome appears to be incompatible with life. Even absence of parts of an autosome appear, asa rule, to -be lethal and may lead to spontaneous abortions (Jacobsen, Dupont, and Mikkelsen, 1963). Grouchy, Lamy, Thieffry, Arthuis, and Salmon (263) described a child with variou...
متن کاملAnomalies of development in a girl with unusual sex chromosomal mosaicism.
Morphological abnormalities of the X chromosome are well documented and have been extensively reviewed and discussed by Ferguson-Smith (1965). They include isochromosome of the long arm, deletions of the long and short arms, ring chromosomes, and chromosomal fragments. Other types of abnormality are rare. Engel and Forbes (1965) described a chromatin negative girl (Patient No. 27) with a mosaic...
متن کاملSex Chromosomal Mosaicism
Morphological abnormalities of the X chromosome are well documented and have been extensively reviewed and discussed by Ferguson-Smith (1965). They include isochromosome of the long arm, deletions of the long and short arms, ring chromosomes, and chromosomal fragments. Other types of abnormality are rare. Engel and Forbes (1965) described a chromatin negative girl (Patient No. 27) with a mosaic...
متن کاملDevelopment in a Girl with Unusual Sex Chromosomal Mosaicism
Morphological abnormalities of the X chromosome are well documented and have been extensively reviewed and discussed by Ferguson-Smith (1965). They include isochromosome of the long arm, deletions of the long and short arms, ring chromosomes, and chromosomal fragments. Other types of abnormality are rare. Engel and Forbes (1965) described a chromatin negative girl (Patient No. 27) with a mosaic...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 8 3 شماره
صفحات -
تاریخ انتشار 1971