Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 6-month-old boy with trisomy 10pter----q11 is reported. He presented facial dysmorphism very similar to that found on most other cases of trisomy 10p syndrome, dextrocardia, umbilical hernia, hypotonia and mental retardation. The chromosome anomaly was inherited by 3:1 segregation of a balanced maternal translocation, t(10qter----q11 ::14p11----qter).
 ...
PMID:Trisomy for the short arm of chromosome 10. Report of a new case resulting from segregation of a maternal balanced translocation t(10qter----q11::14p11----qter). 654 39

A grandfather with balanced translocation t(1:10) gave rise to three possible combinations involving chromosome 10: balanced translocation and trisomy for part of the short arm 10p13 leads to pter in the second generation, and mono- and trisomy 10p13 leads to pter in the third generation. The clinical signs and symptoms of the present case with monosomy 10p13 leads to pter are compared with those of 9 earlier reported cases with a deleted 10p. Together they represent a clinically recognizable syndrome with antimongoloid eye slant, ptosis, epicanthus, high arched or cleft palate, flat nasal bridge, micrognathia, small round and low-set ears, wide spaced nipples, cardiac and urinary tract abnormalities, hand and foot anomalies, hypoplasia/absence of the olfactory bulbs/tracts, psychomotor and growth retardation. More than 20 cases of the trisomy 10p syndrome have been described earlier. The most constant clinical findings are mental retardation, dolichocephaly, frontal bossing, broad nasal bridge, cheilo-palatoschisis, retrognathia and variable internal malformations. We found, however, the clinical characteristics in this syndrome more variable than for the monosomy 10p13 leads to pter syndrome. Our two cases, representing the eldest and the youngest described, have rather few of the typical characteristics, and few in common with each other. This indicates the difficulty in making this diagnosis on clinical features only without a cytogenetic verification.
 ...
PMID:Two chromosomal syndromes in the same family: monosomy and trisomy for part of the short arm of chromosome 10. 715 37

We report on a young male with mental retardation, slightly upslanting palpebral fissures, strabismus, high-arched palate, retrognathia, and flat feet. Cytogenetic analysis in addition to fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) showed the presence of a chromosome 10p11.2-->p12.2 duplication. Karyotypes of the parents were normal. Comparison of the clinical findings observed in the present patient with those observed in other reported cases with duplication 10p suggest that the presence of high arched/cleft palate and retrognathia may be related to the 10p11.2-->p12.2 duplication. Also, no critical region for the trisomy 10p syndrome has been delimited.
 ...
PMID:Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature. 1175 45

Kabuki syndrome (KS) (MIM 147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause. There is multisystem involvement of anomalies, including 1) unique facial features, 2) postnatal growth retardation, 3) mild-to-moderate mental retardation, 4) skeletal anomalies and 5) dermatoglyphic abnormalities. Kabuki syndrome remains a clinical diagnosis despite significant research on detection of the genetic cause. We present 10 patients with Kabuki syndrome with a brief overview of the syndrome. An additional male patient and his affected aunt, both with trisomy 10p due to unbalanced segregation of a familial translocation, are also discussed for overlapping features and differential clinical diagnosis of the two conditions. Considering a significant overlap in clinical pictures of Kabuki syndrome and trisomy 10p in these two patients, as well as the previous patients with chromosomal abnormalities, we conclude that chromosome analysis is an important step in clinical work-up of patients with Kabuki syndrome.
 ...
PMID:Kabuki syndrome and trisomy 10p. 1899 Sep 85