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Further identification of a D/E translocation.

P L Townes·M R White
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Abstract

An infant previously reported to have psychomotor retardation and multiple congenital anomalies including hypotonia, failure to thrive, peculiar facies, low-set ears, micrognathia, and cryptorchidism in association with monosomy due to a D/E (13-15/17-18) translocation has been reexamined. Further cytogenetic studies, using fluorescent techniques, indicate the translocation involves chromosomes 15 and 17. Only two other patients with partial monosomy due to grossly similar D/E translocations have been reported. On reexamination, the translocation in one has recently been found to involve chromosomes 15 and 18 and that in the other has not been further defined.

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Abnormalities, MultipleChildChild, PreschoolChromosome AberrationsChromosome DisordersChromosomes, Human, 13-15Chromosomes, Human, 16-18CryptorchidismEpilepsyHumansInfantMaleMicrognathismPsychomotor DisordersScoliosisSpinal FusionTranslocation, GeneticCase ReportsJournal Article

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BibTeXRIS

P L Townes, M R White. 1975. Further identification of a D/E translocation.. https://doi.org/10.1001/archpedi.1975.02120450065015

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