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De novo trisomy 16p11.2-qter: Report of an infant

✍ Scribed by Masuno, Mitsuo ;Ishii, Takuma ;Tanaka, Yukichi ;Ohyama, Makiko ;Kawataki, Motoyoshi ;Kimura, Junko ;Imaizumi, Kiyoshi ;Kuroki, Yoshikazu


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
76 KB
Volume
92
Category
Article
ISSN
0148-7299

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Partial trisomy 17q22-qter and partial m
✍ Sarri, C.; Gyftodimou, J.; Avramopoulos, D.; Grigoriadou, M.; Pedersen, W.; Pand πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 501 KB

Partial trisomy 17q22-qter is a rare but well-recognized clinical entity. We present a case of partial trisomy for the long arm of chromosome 17, which was detected in a female infant with severe psychomotor and somatic retardation, Stargardt disease, short limbs, and numerous minor anomalies. Diffe