PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Trisomy”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 37 records · Page 2Linked to original sources
PubMed1992

An unusual combination of trisomy 21 and partial trisomy 5q.

The authors describe a male newborn with multiple congenital anomalies; craniofacial dysmorphism, bilateral cleft palate and lip, ambiguous external genitalia with absence of phallus, ventricular septal defect, agenesis of olfactory bulbs, and presence of small round cells simulating migration defect in the cerebellar white matter. Cytogenetic study demonstrated a chromosomal constitution of 47,XY, +21, +5q. Its pathological significance compared with Down's syndrome and hitherto reported partial trisomy 5q is discussed.

Abnormalities, Multiple↗
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↗
PubMed1978

Double trisomy as a mosaic. Case history (48, XYY, + 21/47,XY, +21) and survey of the literature of mixed autosomal-gonosomal trisomies.

The case of a boy is reported showing the typical symptoms of Down's syndrome, in whom the chromosome analysis revealed a mosaic karyotype: 50% 48,XYY,+21/50% 47,XY,+21. Findings of 92 cases from the literature are summarized to show the frequencies of double gonosome-autosome aneuploidies compared with single trisomies. Referring to the different chromosomes involved, the aneuploid cell formation, the frequencies of combinations, as well as the tendency to mosaic formation are analyzed. The age of parents at the time of birth and the life expectancy are described as well as the clinical symptoms. Theories concerning the origin of double aneuploidies are discussed.

Aneuploidy↗
PubMed1976

[Genetic studies in patients with trisomy 21 with special evaluation of morphology and pathogenesis in the orofacial region. Condition of periodontal and oral hygiene in trisomy 21].

The incidence and severity of parodontopathies and results of studies of the level of oral hygiene are reported, in terms of both subjective and objective parameters, for children and juveniles affected with trisomy 21. Also discussed are problems of age and sex dependence; causal, complementary, and reciprocal relationships; and possibilities of prophylaxis.

Adolescent↗
PubMed1975

Trisomy 9q-. a variant of the 9p trisomy syndrome.

A low-birth-weight near-term male infant was found to have a non-familial 47,XY chromosome complement with an extra medium-sized metacentric chromosome slightly larger than a number 16. By Giemsa-trypsin (G-banding) this extra chromosome was determined to be a number 9 with deletion of approximately half of the long arm at region q 22. Chromosome studies on the clinically normal 38-year-old mother showed a balanced translocation with the deleted portion attached onto the distal end of a number 8 short arm, i.e. 46,XX,t(8;9)(p23;q22). Nondisjunction during meiosis of this woman's normal and deleted number 9 chromosomes is the basis of the child's abnormalities. One half-sibling of the child has a balanced translocation similar to that in the mother. Chromosome analyses on 4 others of the child's maternal half-siblings and on the maternal grandmother all showed normal patterns.

Adult↗