✦ LIBER ✦

Prenatal diagnosis of SLO syndrome

✍ Scribed by Gelman-Kohan, Z. ;Chemke, J.

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 65 KB
Volume: 56
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320560311

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Dehydrosteroid measurements in maternal

Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith–Lemli–Opitz syndrome (SLOS)

✍ Cedric H.L. Shackleton; Josep Marcos; Glenn E. Palomaki; Wendy Y. Craig; Richard 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 127 KB 👁 1 views

## Abstract In a large multi‐center trial involving prenatal screening for Smith–Lemli–Opitz syndrome (SLOS), we evaluated maternal urine and serum steroid analysis as a non‐invasive diagnostic alternative to amniotic fluid sterol analysis. Candidate steroid ratios included: 7‐dehydropregnanetriol/

Prenatal diagnosis of Apert syndrome

✍ Chi-Chen Chang; Fuu-Jen Tsai; Horng-Der Tsai; Chang-Hai Tsai; Yao-Yuan Hsieh; Ch 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB 👁 2 views

Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report docum

Prenatal diagnosis of Jeune syndrome

✍ Elejalde, B. Rafael ;De Elejalde, Maria Mercedes ;Pansch, Donald ;Opitz, John M. 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 404 KB 👁 2 views

We describe two sibs affected with Jeune syndrome. The first was diagnosed after birth and the second was diagnosed prenatally using ultrasonography. The detected abnormalities were confirmed by X-ray and autopsy following pregnancy termination. This observation indicates the possibility of prenatal

PRENATAL DIAGNOSIS OF RAMBAM–HASHARON SY

PRENATAL DIAGNOSIS OF RAMBAM–HASHARON SYNDROME

✍ MOSHE FRYDMAN; DAVID VARDIMON; ELIEZER SHALEV; JEROME B. ORLIN 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 341 KB 👁 1 views

Rambam-Hasharon syndrome (RHS) is a newly recognized autosomal recessive inborn error in fucose metabolism. Mental retardation, short stature, coarse facies, and recurrent infections are the main clinical findings. Several fucosilated proteoglycans are deficient in these patients. Leukocyte adhesion

Prenatal diagnosis of nail-patella syndr

Prenatal diagnosis of nail-patella syndrome

✍ Iain McIntosh; Mark V. Clough; Eva Gak; Moshe Frydman 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 116 KB 👁 1 views

Fig. 1-Pedigree of family described in text showing haplotypes generated with four polymorphic markers around the NPS locus. Affected haplotype boxed and bold. m+ =tested positive for 750+1G<A mutation; m =tested negative for 750+1G<A mutation

Prenatal diagnosis of Pallister-Killian

Prenatal diagnosis of Pallister-Killian syndrome

✍ Soukup, S. ;Neidich, K. 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 282 KB 👁 1 views