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New Recurrent Series in Inbreeding Phenomena (1961)

MARÇALLO, F. A. ; FREIRE-MAIA, N.

[s.l.] : Nature Publishing Group

Nature 189 (1961), S. 421-422

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ISSN: 1476-4687

Source: Nature Archives 1869 - 2009

Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics

Notes: [Auszug] Excluding x0, which corresponds to sib mating, and x19 corresponding to UN -f AN, all the other consanguineous matings (that is, the cousin matings) have their positions in the series given by multiplying their respective abbreviated representation . (1, 1-J, 2, 2 £ . . .) by 2. Third cousins ...

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1038/189421a0

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Hemihypotrophy in a girl with a translocation t(13q;7p) (1977)

Marçallo, F. A. ; Werneck, L. C. ; Pilotto, R. F. ; [et al.]

Springer

European journal of pediatrics 124 (1977), S. 167-171

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ISSN: 1432-1076

Keywords: Hemiasymmetry ; Hemihypotrophy ; de novo translocation (46,XX,t[13q;7p]) ; Mosaicism ; Balanced cell line ; Unbalanced cell line ; Borderline intelligence ; Minor anomalies

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract A 10 year old girl with a mental age of 7–8 years, normal height and head circumference and several minor anomalies had hemiasymmetry of the entire body, the left side being uniformly smaller than the right. The smaller side was considered the abnormal side and her condition interpreted as hemihypotrophy on the basis of a chromosome abnormality which involved mosaicism, with lymphocytes showing a balanced but very unequal translocation of most of 13q transferred to 7p and both translocation chromosomes being present, and all examined fibroblasts lacking the small translocation chromosome and hence being monosomic for 13p, proximal part of 13q and a terminal portion of 7p.