A chromosome 9q22.1 -q3 1.3 direct duplication was found in a 40-year-old patient in a screening program for mentally retarded people. The duplicated region was confirmed by fluorescent in situhybridisation (FISH) showing a double fluorescent signal with 9561410 and 931D9 YACs, mapping respectively to q2 1.33-22.1 and 22.3 I -22.33. YAC 933C.5, mapping more distally in 31.3-32, resulted in a single signal.
Involvement of 9q22.1-31.3 region in pyloric stenosis / P., Maraschio; E., Maserati; L., Seghezzi; Tupler, Rossella; M. P., Verri; A., MARCHI A; L., Tiepolo. - In: CLINICAL GENETICS. - ISSN 0009-9163. - STAMPA. - 54:2(1998), pp. 159-160.
Involvement of 9q22.1-31.3 region in pyloric stenosis
TUPLER, Rossella;
1998
Abstract
A chromosome 9q22.1 -q3 1.3 direct duplication was found in a 40-year-old patient in a screening program for mentally retarded people. The duplicated region was confirmed by fluorescent in situhybridisation (FISH) showing a double fluorescent signal with 9561410 and 931D9 YACs, mapping respectively to q2 1.33-22.1 and 22.3 I -22.33. YAC 933C.5, mapping more distally in 31.3-32, resulted in a single signal.Pubblicazioni consigliate
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