✦ LIBER ✦

Phenotypic discordance in monozygotic twins with 22q11.2 deletion

✍ Scribed by Yamagishi, Hiroyuki; Ishii, Chihiro; Maeda, Jun; Kojima, Yoshifumi; Matsuoka, Rumiko; Kimura, Misa; Takao, Atsuyoshi; Momma, Kazuo; Matsuo, Nobutake

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 10 KB
Volume: 78
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980724)78:4<319::aid-ajmg3>3.0.co;2-g

No coin nor oath required. For personal study only.

✦ Synopsis

We report on male monozygotic twins with 22q11.2 deletion and discordant phenotypes. The twins had twin-to-twin transfusion syndrome. Twin 1, the smaller of the pair, had Tetralogy of Fallot, a characteristic facial appearance, swallowing dysfunction, anal atresia, short stature, and mental retardation, whereas twin 2 had a characteristic facial appearance but no other signs of the 22q11 deletion syndrome. Fluorescence in situ hybridization analysis showed a microdeletion on chromosome 22q11.2 in both twins. Zygosity analysis gave a probability of monozygosity greater than 99.999%. These observations indicate that environmental factors or postzygotic events play a role in the phenotypic variability in the twins. Am.

📜 SIMILAR VOLUMES

Deletion of 22q11 in two brothers with d

Deletion of 22q11 in two brothers with different phenotype

✍ Kasprzak, Lidia; Der Kaloustian, Vazken M.; Elliott, Alison M.; Shevell, Michael 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 2 views

We have studied two brothers with submicroscopic 22q11 deletion. One brother had findings suggestive of DiGeorge syndrome, while the other had milder anomalies, including polydactyly. Fluorescence in situ hybridization (FISH) showed a minor cell line with deletion 22q11 in the mother. To our knowled

Some causes of genotypic and phenotypic

Some causes of genotypic and phenotypic discordance in monozygotic twin pairs

✍ Machin, Geoffrey A. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 99 KB 👁 2 views

The use of the adjective "identical" rather than monozygotic leads to misunderstandings about the biology of monozygotic twinning. Most monozygotic twin pairs are not identical; there may be major discordance for birth weight, genetic disease, and congenital anomalies. These indicate that postzygoti

22q11 deletion syndrome in adults with s

22q11 deletion syndrome in adults with schizophrenia

✍ Bassett, Anne S.; Hodgkinson, Kathy; Chow, Eva W.C.; Correia, Susana; Scutt, Lau 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 48 KB 👁 2 views

Genetic syndromes associated with deletions at chromosome 22q11 generally have been diagnosed during childhood based on a constellation of physical features. To investigate a reported association of velocardiofacial syndrome with psychotic disorders in adults, we assessed subjects with DSM-IV schizo

Phenotype of adults with the 22q11 delet

Phenotype of adults with the 22q11 deletion syndrome: A review

✍ Cohen, Eyal; Chow, Eva W. C.; Weksberg, Rosanna; Bassett, Anne S. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 2 views

22q11 deletion syndrome (22qDS) is due to microdeletions of chromosome region 22q11.2. Little is known about the phenotype of adults. We reviewed available case reports of adults (age ≥18 years) with 22qDS and compared the prevalence of key findings to those reported in a large European survey of 22

Pseudoachondroplasia with de novo deleti

Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)]

✍ Ikegawa, Shiro; Ohashi, Hirofumi; Hosoda, Fumie; Fukushima, Yoshimitsu; Ohki, Mi 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 1 views

Pseudoachondroplasia (PSACH) is a relatively common osteochondrodysplasia characterized clinically by short-limbed short stature with normal face, and radiographically by platyspondyly and dysplasias of epiphyses and metaphyses of the tubular bones. Recently, mutation of cartilage oligomeric matrix

Hemophagocytic lymphohistiocytosis in a

Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2

✍ Aric�, Maurizio; Bettinelli, Alberto; Maccario, Rita; Clementi, Rita; Bossi, Gra 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 1 views

We report on a new patient with deletion of 22q11 associated with hemophagocytic lymphohistiocytosis and a fatal outcome. She had minor facial anomalies and cardiac malformation corresponding to those described in del (22q11) syndrome, normal T and B cell function and NK activity; bone marrow aspira