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#3
28.07.2006, 23:13
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Если найдете интересными следующую публикацию, то могу сбросить ее на мыло (ЛС):
Am J Med Genet. 2002 Nov 22;113(2):218-24. Pure partial trisomy 7q: two new patients and review.Rodriguez L, Lopez F, Paisan L, de la Red Mdel M, Ruiz AM, Blanco M, Antelo Cortizas J, Martinez-Frias ML. Estudio Colaborativo Espanol de Malformaciones Congenitas (ECEMC), Centro de Investigacion sobre Anomalias Congeticas (CIAC), Instituto de Salud Carlos III, Madrid, Spain. We report on two new cases with a pure partial trisomy of the long arm of chromosome 7. Patient 1 was a female who showed cleft palate with retrognathia, cardiomyopathy, and pulmonary hypertension. Patient 2 was a male who showed microretrognathia, cleft palate, micropenis, camptodactyly, and clynodactyly. High-resolution G-bands (550-850) karyotype showed that patient 1 had an extra chromosome, which resulted from the adjacent 3:1 segregation from a maternal balanced reciprocal translocation, and patient 2 had an abnormaly Y chromosome. Fluorescent in Situ Hybridization (FISH) analysis with a whole chromosome painting confirmed in the first patient that the extra chromosome was from chromosome 7, and in patient 2 the abnormal Y chromosome had extra material of chromosome 7 origin. Three different clinical entities have been described as the product of the partial trisomy of three different 7q regions, although some authors have found no karyotype-phenotype correlations. Of the patients presented here, patient 1 had trisomy of those three regions, and patient 2 had trisomy of two of those regions. 
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#4
28.07.2006, 23:21
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А если интересует partial trisomy 7p syndrome, то могу и эту:
Am J Med Genet. 2001 Sep 15;103(1):56-62. Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.Stankiewicz P, Thiele H, Baldermann C, Kruger A, Giannakudis I, Dorr S, Werner N, Kunz J, Rappold GA, Hansmann I. Institute of Human Genetics and Medical Biology, University Halle-Wittenberg, Halle/S, Germany. We report on a three-month-old boy with a 46,XY,der(Y)t(Y;7)(p11.32;p15.3) karyotype and growth deficiency, postnatal microcephaly with large fontanels, wide sagittal and metopic sutures, hypertelorism, choanal stenosis, micrognathia, bilateral cryptorchidism, hypospadias, abnormal fingers and toes, and severe developmental delay. FISH studies showed partial trisomy 7p resulting from a de novo unbalanced translocation. The application of molecular probes from the TWIST gene region (7p15.3-p21.1) and probes from the pseudoautosomal region (PAR) demonstrated that the 7p15.3-pter fragment was translocated onto Yp with the breakpoint within approximately 20 kb from the Yp telomere. We discuss the possible role of the TWIST gene in abnormal skull development and suggest that trisomy 7p cases with delayed closure of fontanels can be a result of TWIST gene dosage effect.
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