𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Study of the origin of nondisjunction in a family with two cases of Down syndrome using cytogenetic and molecular polymorphisms

✍ Scribed by Stinissen, Piet ;Van Roy, Bernadette ;Van Camp, Guy ;Backhovens, Hubert ;Partoens, Peter ;Wehnert, Anita ;Verniers, Heidi ;Dumon, Jan ;Vandenberghe, Antoon ;Van Broeckhoven, Christine


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
400 KB
Volume
37
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis


We analyzed the possibility of inherited predisposition to nondisjunction in a family with two cases of Down syndrome using restriction fragment length polymorphisms and cytogenetic heteromorphisms. In both patients the extra chromosome 21 was the result of a nondisjunction event at first meiotic division in the mother. Since both patients are maternally related, genetic predisposition cannot be excluded in this family.


πŸ“œ SIMILAR VOLUMES


Cytogenetic study of the heterochromatic
✍ Palka, G. ;Ciccotelli, M. ;Sabatino, G. ;Calabrese, G. ;Franchi, P. Guanciali ;S πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 328 KB πŸ‘ 1 views

We report on a cytogenetic study of 100 subjects with Down syndrome (DS), diagnosed from 1980 to 1988, and their parents. Free trisomy was present in 95% of the patients; 5% had trisomy due to an unbalanced translocation. Approximately 60% of patients were born to mothers younger than age 35 years,

Molecular and cytogenetic analysis of th
✍ Perroni, L.; Grasso, M.; Argusti, A.; Nigro, C. Lo; Croci, G. F.; Zelante, L.; G πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 25 KB πŸ‘ 1 views

We report on a series of 453 mentally retarded subjects investigated for fragile X syndrome from 1982 to July 1995. The 22% rate of efficiency of FRAX positivity indicated a significant preselection by the c h icians. However, this rate dropped to ll% in the last year. Since 1992, Southern blot anal

CARD15 mutations in familial granulomato
✍ Xiaoju Wang; Helena Kuivaniemi; Gina Bonavita; Lysette Mutkus; Ulrike Mau; Edwar πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 84 KB

## Abstract ## Objective To analyze the __CARD15__ gene in families with heritable multi‐organ granulomatoses, including the original Blau syndrome kindred as well as other families with related granulomatous conditions. ## Methods Linkage mapping was performed in 10 families. Observed recombina

Molecular study of WISP3 in nine familie
✍ ValΓ©rie Delague; Eliane Chouery; Sandra Corbani; Ismat Ghanem; Suhail Aamar; Jud πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 299 KB πŸ‘ 2 views

## Abstract Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive syndrome characterized by the presence of spondyloepiphyseal dysplasia associated with pain, stiffness, and swelling of multiple joints, osteoporosis, and the absence of destructive bone changes. The disorder is

Rates of Down syndrome at livebirth by o
✍ Hecht, Christina August; Hook, Ernest B. πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 175 KB πŸ‘ 2 views

Precision and accuracy in determining rates of Down syndrome at livebirth are indispensible to algorithms which determine eligibility for prenatal cytogenetic diagnostic services. W e derived Down syndrome rates by single year of maternal age which we propose as a revised rate schedule for backgroun