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Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation—and review of the literature

✍ Scribed by Schmidt, Beate; Udink ten Cate, Floris; Weiß, Michael; Koehler, Udo


Book ID
113042727
Publisher
Springer
Year
2012
Tongue
English
Weight
181 KB
Volume
171
Category
Article
ISSN
0340-6997

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📜 SIMILAR VOLUMES


Partial trisomy 7q and probable partial
✍ A. Schinzel; O. Tönz 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 440 KB

An underweight male newborn revealed a complex pattern of abnormal findings including severe neurologic dysfunction, a catlike cry, defective ossification of the calvarian bones, hypertelorism, downward slanting palpebral fissures, epicanthal folds, a short and flat nose with a flattened bridge, bro

Prenatal diagnosis of partial trisomy 3p
✍ Chih-Ping Chen; Koenraad Devriendt; Chen-Chi Lee; Wen-Lin Chen; Wayseen Wang; Ta 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 228 KB 👁 1 views

We report the prenatal diagnosis of partial trisomy 3p(3p23<pter) and monosomy 7q(7q36<qter) in a fetus with microcephaly, alobar holoprosencephaly and cyclopia. A 26-year-old primigravida woman was referred for genetic counselling at 23 gestational weeks due to sonographic findings of intra-uterine

Partial trisomy 17q22-qter and partial m
✍ Sarri, C.; Gyftodimou, J.; Avramopoulos, D.; Grigoriadou, M.; Pedersen, W.; Pand 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 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