Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Strikingly similar abnormalities were present in two severely retarded children, an 8-year-old boy and a 12-year-old girl, who were first cousins once removed. Dysmorphic features included high bulging forehead with frontal upsweep of hair, flat, wide glabella and nasal bridge, maxillary hypoplasia, ptosis, dacryostenosis, dolichostenomelia, hyperextensible fingers with subluxation in proximal interphalangeal joints, hypoplastic external genitalia, and overconstriction of the shafts of all long bones. Both patients had unbalanced karyotypes, with duplication of the distal third of the short arm of chromosome 2, resulting from the same balanced reciprocal translocation prestne in both mothers: der (2), t(2;7)(p23;q36)mat. Seven additional translocation carriers were identified in four generations of this kindred.
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PMID:The 2p partial trisomy syndrome. Duplication of region 2p23 leads to 2pter in two members of a t(2;7) translocation kindred. 98 8

Chromosomal translocations affecting the 6p24 region have been associated with orofacial clefting. Here we present a female patient with cleft palate, severe growth retardation, developmental delay, frontal bossing, hypertelorism, antimongoloid slant, bilateral ptosis, flat nasal bridge, hypoplastic nasal alae, protruding upper lip, microretrognathia, bilateral, low set, and posteriorly rotated ears, bilateral microtia, narrow ear canals, short neck, and a karyotype of 46,XX,t(6;9)(p24;p23). The translocation chromosomes were analysed in detail by FISH and the 6p24 breakpoint was mapped within 50-500 kb of other breakpoints associated with orofacial clefting, in agreement with the assignment of such a locus in 6p24. The chromosome 9 translocation breakpoint was identified to be between D9S156 and D9S157 in 9p23-p22, a region implicated in the 9p deletion syndrome.
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PMID:Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting. 978 13

A 3-month old girl with monosomy for distal part of the short arm of chromosome 3 is described. Physical examination showed growth retardation, microcephaly, ptosis, micrognathia, low set ears, broad nasal bridge, Simian crease, long philtrum, thin lips and hypertelorism. The patient's clinical phenotype largely resembled that of 3p- syndrome but her karyotype was more complicated than just losing the telomeric portion (3p-25.3) of the short arm of one of her chromosomes 3. Her karyotype was 46, XX, t(2;18) (p12;q12.1), del(3) (p23p26), t(3;9;15; 20) (q13;p23;q12; p12). Her parents showed a normal karyotype pattern.
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PMID:Complex translocation among chromosomes 2, 3, 9, 15, 18, 20 in a patient with 3p-syndrome. 2497 67