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Biomedical subjects

C Turleau

Publications and source records attributed to C Turleau.

At least 145 records · Page 8Linked to original sources
PubMed1976

[Trisomy 10 p. A previously reported case explained by binding].

A previously reported male infant having died at 4 months, was considered trisomic Cp, his mother being carrier of balanced translocation t(Cp-;Bq +). Reexamination of the chromosome complement after R-banding showed the translocation to be t(4;10)(q35;p11). The propositus was therefore trisomic 10p. The essential clinical features were: a small birth weight and a short birth length; hypotonia; psychomotor retardation; dolichocephalia; a high and bulky forehead; narrow lips; large, lowset ears with a posterior rotation; a small chin; bone and joint anomalies; dextrocardia.

Abnormalities, Multiple↗
PubMed1976

Mapping of the gene for glutathione reductase on chromosome 8.

Red cell glutathione reductase (E-GSR) activity in 3 patients with mos46,XY/47,XY,+8 was higher than the mean value in controls, confirming the previous assignment of the E-GSR locus to chromosome 8. In a infant with a terminal deletion of the short arm of chromosome 8, 46,XX,del(8)(:p21 leads to qter), E-GSR activity was markedly lower than in infant controls. The authors suggest that the E-GSR locus is in the region 8p21 leads to pter.

Chromosome Mapping↗
PubMed1975

Partial trisomy 9q: a new syndrome.

Two unrelated patients with a strikingly similar phenotype (low birth weight and poor thriving; mental retardation; dolichocephaly; beaked nose; deeply set eyes; prominent maxilla and receding small chin; long fingers with a peculiar clench) were partially trisomic for two different segments of 9q. The segment found to be trisomic in both patients is small and corresponds to the q31q32 region. This new syndrome is compared to observations of trisomy 9 reported in the literature.

Blood Group Antigens↗
PubMed1975

[Partial trisomy 14q II.--Partial trisomy 14q due to a maternal t(12; 14) (q24.4; q21)].

The phenotype of an 18-month-old male infant trisomic for the proximal portion of the long arm of chromosome 14 was reported and compared with that of previously reported cases. For the identification of the resulting syndrome, the most consistent features are psychomotor and growth retardation, and an oval, dysmorphic facies which includes a distinctive form of the mouth and a prominent nose. The trisomy in the child reported here is due to a familial translocation transmitted by the mother and present in at least three generations: t(12;14)(q24.4;q21). The 12q duplication in the child's genome is minimal and does not seem to have contributed to his phenotype.

Abnormalities, Multiple↗
PubMed1975

[Pure trisomy 9p 47,XX,+ del(9) (q11). Discovery of one cell 46,XX, del(9) (q11) in the father].

A case is reported of "pure" trisomy 9p: 47,XX,+del(9) (q11). The affected 6-year-old girl has moderate psychomotor retardation (IQ near 70), with speech retardation. She is mildly dysmorphic, with the characteristic features of trisomy 9p: a "worried look", a unilateral grin, slant of the palpebral fissures, a globulous nose, brachymesophalangia and the characteristic dermatoglyphic features. The parents karyotypes are normal, except for one cell from the father which had the karyotype 46,XY,del(9)(q11), the implications of which are discussed.

Child↗
PubMed1975

[Pericentric inversion of no. 3, homozygous and heterozygous, and centromeric transposition of no. 12 in a family of orangutans. Implications for evolution].

An orang-utan family is reported in which the father (Piku) is homozygous for a pericentric inversion of chromosome 3 and heterozygous for a structural rearrangement of chromosome 12 (author's nomenclature for this species). The latter is interpreted as transposition of the centromere by insertion into band q213 [ins cen(12)(q213)]. Piku's mate has a normal female chromosome complement. His daughters by this mate (Agnès and Ursula) are heterozygous for both his rearrangements. A fifth orang-utan (Arnold) captured on a different Malesian island was found to have one chromosome 12 similar to that of Piku, and to have a female complement, even though his keapers considered him male. Several hypotheses are proposed to explain the observations, including consanguinity, the existence of a common polymorphism in the species, and the existence of an established subspecies among orang-utans.

Animals↗
PubMed1975

[Partial 11q monosomy and trigonocephaly. A new syndrome].

Partial monosomy 11q occurring de novo and concerning the 11q231 leads to qter region, is reported in a 2-month-old boy. This observation together with three others from the literature allows the individualization of a syndrome characterized by: severe growth retardation: more or less pronounced mental retardation; trigonocephaly; facial dysmorphia.

Chromosome Deletion↗