Pure partial trisomy 7q: Two new patients and review

✍ Scribed by Rodríguez, Laura ;López, Fermina ;Paisán, Luis ;de la Red, Maria del Mar Portugués ;Ruiz, Angeles Maria ;Blanco, Manuel ;Antelo Cortizas, Jesús ;Martínez-Frías, María Luisa

• Publisher: John Wiley and Sons
• Year: 2002
• Tongue: English
• Weight: 213 KB
• Volume: 113
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.10719

✦ Synopsis

Abstract

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. © 2002 Wiley‐Liss, Inc.