✦ LIBER ✦

A 5-year-old girl with interstitial deletion of 3p14: Clinical, psychologic, cytogenetic, and molecular studies

✍ Scribed by Schinzel, Albert; Gundelfinger, Ronnie; Dutly, Fabrizio; Baumer, Alessandra; Binkert, Franz

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 23 KB
Volume: 77
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980526)77:4<302::aid-ajmg10>3.0.co;2-m

No coin nor oath required. For personal study only.

✦ Synopsis

An interstitial deletion of segment 3p14 (breakpoints 3p21.1 and 3p13) was found in a 5-year-old short, microcephalic, and mentally retarded girl with a pattern of anomalies comprising a wide forehead, short upslanting palpebral fissures, small nose and ears, hypoplasia of larynx, trachea, and bronchi, clino-and camptodactyly of little fingers, and sacral vertebral fusion. Determination of microsatellites mapping to the deleted segment demonstrated that the deletion had occurred in the paternal germ line. This is the seventh patient with a deletion of 3p14, and comparison with the six previously reported cases does not yet allow definition of a specific pattern of minor and major anomalies.

📜 SIMILAR VOLUMES

Molecular cytogenetics of a de novo inte

Molecular cytogenetics of a de novo interstitial deletion of chromosome arm 6q in a developmentally normal girl

✍ Kumar, Arun; Cassidy, Suzanne B.; Romero, Lynne; Schwartz, Stuart 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB 👁 2 views

Using fluorescence in situ hybridization and microsatellite analysis, we have characterized a de novo interstitial deletion on the long arm of chromosome 6 [46,XX,del(6) (q23.3q24.2)] in a developmentally normal girl with very mild phenotypic abnormalities. The deletion was paternal in origin and wa

Clinical and molecular studies of brachy

Clinical and molecular studies of brachydactyly type D

✍ Robin, Nathaniel H.; Hurvitz, Jennifer; Warman, Matthew L.; Morrison, Stuart 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 51 KB 👁 1 views

We report on the clinical manifestations in six affected individuals from a fourgeneration family that segregates brachydactyly type D (BDD). All affected individuals have either bilateral and symmetric or unilateral first distal phalangeal hypoplasia. Metacarpal-phalangeal profiles show that some a

Small terminal deletion of 1p and duplic

Small terminal deletion of 1p and duplication of 1q: Cytogenetics, FISH studies, and clinical observations at newborn and at age 16 years

✍ Fan, Yao-Shan; Jung, Jack; Hamilton, Brenda 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 1 views

A small, extra chromosome segment added to 1p was found by Q-banding 16 years ago in a newborn baby with low birth weight, short stature, wide open fontanelle, small palpebral fissures, depressed nose bridge, and inguinal hernia. This chromosome abnormality has been characterized recently with G-ban

Interstitial duplications of chromosome

Interstitial duplications of chromosome region 15q11q13: Clinical and molecular characterization

✍ Repetto, Gabriela M.; White, Lisa M.; Bader, Patricia J.; Johnson, Debra; Knoll, 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 45 KB 👁 1 views

D u p l i c a t i o n s o f c h r o m o s o m e r e g i o n 15q11q13 often occur as a supernumerary chromosome 15. Less frequently they occur as interstitial duplications [dup(15)]. We describe the clinical and molecular characteristics of three patients with de novo dup(15). The patients, two males

Molecular and clinical correlation study

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome

✍ Wang, Michael S.; Schinzel, Albert; Kotzot, Dieter; Balmer, Damina; Casey, Robin 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 75 KB 👁 2 views

## Williams -Beuren syndrome (WBS) results from a deletion of 7q11.23 in 90-95% of all clinically typical cases. Clinical manifestation can be variable and therefore, deletion size, inherited elastin (ELN) and LIM kinase 1 (LIMK1) alleles, gender, and parental origin of deletion have been investiga

45,X/46,X,idic(Yq) mosaicism: Clinical,

45,X/46,X,idic(Yq) mosaicism: Clinical, cytogenetic, and molecular studies in four individuals

✍ Teraoka, Michio; Narahara, Koji; Yokoyama, Yuji; Tsuji, Kazushiro; Kikkawa, Kiyo 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB 👁 2 views

45,X/46,X,idic(Yq) mosaicism is associated with a variety of sex phenotypes, including Ullrich-Turner syndrome (UTS), intersexuality, and complete male. It remains unclear whether the phenotypic variability results from a dilutional effect by the 45,X cell line in the primordial gonad or an abnormal