A case of de novo i(12p) with 12q whole-arm translocation mosaicism

✍ Scribed by Marques-de-Faria, Antonia Paula ;Hackel, Christine

• Publisher: John Wiley and Sons
• Year: 1989
• Tongue: English
• Weight: 447 KB
• Volume: 33
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320330407

✦ Synopsis

We report a dup(l2p) due to a de nouo i(12p) in a girl with mosaicism for 12q whole-arm translocations onto 7p, 7q, and l l q terminal regions. The dup(l2p) syndrome was confirmed by clinical, cytogenetic, and LDH-dosage studies. KEY WORDS: isochromosome 12p, de nouo duplication 12p, 12q translocation mosaicism, multiple congenital anomalies syndrome CLINICAL REPORT The proposita (Fig. l ) , a Caucasian girl, was born in January 1984 and was the third child of healthy, nonconsanguineous parents (mother 31, father 35 years old) with no known cases of congenital anomalies among their relatives. Her older and normal sibs were a 7 year-old sister and a 2 year-old brother. She was born at term after an uneventful pregnancy by cesarean section be-