منابع مشابه
De novo partial trisomy 15q (proximal type).
This report describes a retarded girl with strabismus, high arched palate, antimongoloid slant, low set ears, hearing loss, micrognathia, short neck, and an anteriorly displaced anus. She was found to have a de novo partial trisomy of the proximal part of the long arm of chromosome 15.
متن کاملMolecular screening for proximal 15q abnormalities in a mentally retarded population.
Paternal or maternal deletions in the 15q11.2-q13 region are known to result in Prader-Willi syndrome (PWS) or Angelman syndrome (AS), respectively. Maternal duplications in 15q11.2-q13 have been found in patients with autism. A population of adults with moderate to profound mental retardation was studied to examine the usefulness of PCR based molecular methods in screening for proximal chromos...
متن کاملMonosomy 18p
Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. The incidence is estimated to be about 1:50,000 live-born infants. In the commonest form of the disorder, the dysmorphic syndrome is very moderate and non-specific. The main clinical features are short stature, round face with short philtrum, palpebral ptosis and large ear...
متن کاملDuplication of medial 15q confirmed by FISH.
EDITOR—The proband was a male infant born to a 28 year old mother and 24 year old father. The parents were healthy and non-consanguineous. There was no significant family history. The pregnancy was complicated by intrauterine growth retardation. At term, birth weight was 2300 g and bilateral talipes were noted, as were a number of dysmorphic features. These included an enlarged anterior fontane...
متن کاملPartial monosomy 7q.
We report a case of partial monosomy 7q and partial trisomy 14q in a 4 year old male with microcephaly, prominent eyes, arched eyebrows, malformed ears and overlapping of toes. The unbalanced rearrangement resulted in monosomy of 7q33-->qter and trisomy of 14q32.2-->qter. The clinical phenotype was similar to the other cases of 7q deletion.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1982
ISSN: 1468-6244
DOI: 10.1136/jmg.19.5.393-a