✦ LIBER ✦

Prenatal diagnosis and molecular cytogenetics in a case of partial trisomy 14 and monosomy 21

✍ Scribed by Lee, Charles ;Fowler, Darren J. ;Lemyre, Emmanuelle ;Sandstrom, Mary McH. ;Holmes, Lewis B. ;Morton, Cynthia C.

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 173 KB
Volume: 100
Category: Article
ISSN: 0148-7299
DOI: 10.1002/1096-8628(20010501)100:3<246::aid-ajmg1254>3.0.co;2-n

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Prenatal diagnosis of bilateral ventricu

Prenatal diagnosis of bilateral ventriculomegaly and an enlarged cisterna magna in a fetus with partial trisomy 9 and partial trisomy 21

✍ Chih-Ping Chen; Jin-Chung Shih 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 66 KB 👁 2 views

We report the ultrasound detection of cranial abnormalities in a fetus with partial trisomy 9 (pter-q22) and partial trisomy 21 (q22.3-qter) due to a 3:1 segregation with tertiary aneuploidy transmitted from a maternal reciprocal translocation 9;21. Prenatal sonographic findings of the proband at 24

Prenatal diagnosis of partial trisomy 1q

Prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops fetalis

✍ Tracy L. Pressey; R. Douglas Wilson; Stefanie Kasperski; Michael W. Bebbington; 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 82 KB 👁 1 views

Prenatal diagnosis of a transient myelop

Prenatal diagnosis of a transient myeloproliferative disorder in trisomy 21

✍ A. A. Baschat; T. Wagner; R. Malisius; U. Gembruch 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 148 KB 👁 2 views

We report the prenatal diagnosis of a transient myeloproliferative disorder suggestive of leukaemia in a fetus with hepatosplenomegaly, hydrops and 47, XY,+21 karyotype. The initial fetal white blood cell count at 26+5 weeks' gestation was 190/nl with 70 per cent blast cells. Immunophenotyping of th

Prenatal diagnosis of partial trisomy 12

Prenatal diagnosis of partial trisomy 12 and partial trisomy 21 due to a 3:1 segregation of maternal reciprocal translocation t(12;21) (p13.3;q21)

✍ Chih-Ping Chen; Cheng-Chun Lin; Chun-Yu Chuang; Chen-Chi Lee; Wen-Lin Chen; Shea 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 99 KB 👁 1 views

We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p13.3-pter) and partial trisomy 21 (pter-q21) due to a 3:1 segregation with tertiary aneuploidy transmitted from a maternal reciprocal translocation 12;21. Genetic amniocentesis of a 39-year-old gravida 2, para 1 woman at

Prenatal diagnosis of mosaicism for part

Prenatal diagnosis of mosaicism for partial trisomy 8: a case report including fetal pathology

✍ A. Jay; M. D. Kilby; E. Roberts; K. Brackley; C. Platt; J. McHugo; E. V. Davison 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 217 KB 👁 2 views

A case of prenatally diagnosed partial trisomy 8 is described. The 'syndrome' is associated with skeletal and cardiac anomalies, as well as hepatic calcification. Differing proportions of 47,XY,+der(8) and 46 XY were present in the different fetal tissues sampled. The highest proportion of 47,XY,+de

Prenatal diagnosis of a partial trisomy

Prenatal diagnosis of a partial trisomy 7q in two fetuses with bilateral ventriculomegaly

✍ Christel Robinet; Serge Douvier; Philippe Khau Van Kien; Bernardine Favre; Isabe 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 44 KB 👁 2 views