Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.
Rahmani, Z, Blouin, J L, Creau-Goldberg, N, Watkins, P C, Mattei, J F, Poissonnier, M, ...
The duplication of a specific region of chromosome 21 could be responsible for the main features of Down syndrome. To define and localize this region, we analyzed at the molecular level the DNA of...
Mapping of DNA markers close to the fragile site on the human X chromosome at Xq27.3.
Patterson, M, Kenwrick, S, Thibodeau, S, Faulk, K, Mattei, M G, Mattei, J F, ...
We report the identification of a new RFLP detected by the DNA probe MN12, which is linked to both the fragile site on the X chromosome at Xq27.3 and the highly polymorphic locus detected by St14...
Nguyen, C, Pontarotti, P, Birnbaum, D, Chimini, G, Rey, J A, Mattei, J F, ...
In spite of the large amount of genetic data obtained on the X chromosome and of the availability of many cloned sequences little is known about the physical map of this chromosome. The construction...
The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).
Saugier-Veber, P, Abadie, V, Moncla, A, Mathieu, M, Piussan, C, Turleau, C, ...
Juberg-Marsidi syndrome (McKusick 309590) is a rare X-linked recessive condition characterized by severe mental retardation, growth failure, sensorineural deafness, and microgenitalism. Here we...
Blouin, J. L., Rahmani, Z., Chettouh, Z., Prieur, M., Fermanian, J., Poissonnier, M., ...
As an alternative to the methods of gene dosage based on either RFLP studies or Southern blots using specific and reference probes, we designed a “slot blot” method for the evaluation of the copy...
Aymé, S, Mercier, P, Dallest, R, Mattei, J F
As the HLA system could play a role in the in utero selection process against abnormal fetuses, HLA-A and -B antigens were evidenced in 30 children with trisomy 21 and in their parents, using a...
Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.
Rahmani, Z, Blouin, J L, Creau-Goldberg, N, Watkins, P C, Mattei, J F, Poissonnier, M, ...
The duplication of a specific region of chromosome 21 could be responsible for the main features of Down syndrome. To define and localize this region, we analyzed at the molecular level the DNA of...
Mapping of DNA markers close to the fragile site on the human X chromosome at Xq27.3.
Patterson, M, Kenwrick, S, Thibodeau, S, Faulk, K, Mattei, M G, Mattei, J F, ...
We report the identification of a new RFLP detected by the DNA probe MN12, which is linked to both the fragile site on the X chromosome at Xq27.3 and the highly polymorphic locus detected by St14...
Nguyen, C, Pontarotti, P, Birnbaum, D, Chimini, G, Rey, J A, Mattei, J F, ...
In spite of the large amount of genetic data obtained on the X chromosome and of the availability of many cloned sequences little is known about the physical map of this chromosome. The construction...
The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).
Saugier-Veber, P, Abadie, V, Moncla, A, Mathieu, M, Piussan, C, Turleau, C, ...
Juberg-Marsidi syndrome (McKusick 309590) is a rare X-linked recessive condition characterized by severe mental retardation, growth failure, sensorineural deafness, and microgenitalism. Here we...
Blouin, J. L., Rahmani, Z., Chettouh, Z., Prieur, M., Fermanian, J., Poissonnier, M., ...
As an alternative to the methods of gene dosage based on either RFLP studies or Southern blots using specific and reference probes, we designed a “slot blot” method for the evaluation of the copy...
Aymé, S, Mercier, P, Dallest, R, Mattei, J F
As the HLA system could play a role in the in utero selection process against abnormal fetuses, HLA-A and -B antigens were evidenced in 30 children with trisomy 21 and in their parents, using a...
Duchenne type muscular dystrophy and consanguinity: difficulties in pedigree analysis.
Aymé, S, Pelissier, J F, Garnier, J M, Mattei, J F, Giraud, F
We report the case of a 2-year-old girl who had signs of Duchenne type muscular dystrophy on clinical, electromyographic, laboratory, and pathological examination. The parents of the child are first...
Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome.
Mattei, J F, Mattei, M G, Coignet, J, Giraud, F
An unbalanced Y autosome translocation t(5;Y) and an apparently balanced translocation t(2;13) are identified with the Q and R banding in a 7-year-old boy with severe encephalopathy and a multiple...
Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.
Moncla, A, Livet, M O, Auger, M, Mattei, J F, Mattei, M G, Giraud, F
Interstitial deletion of the short arm of chromosome 17 was detected in three patients. They all had a similar phenotype with mental retardation, behavioural problems, facial dysmorphism,...
Maternal age and origin of non-disjunction in trisomy 21.
Mattei, J F, Ayme, S, Mattei, M G, Giraud, F
The role of maternal age in chromosomal non-disjunction was investigated by studying 51 families in whom the origin of the meiotic anomaly had been identified. Results of this study were compared...
Three sibs, the proband and two monozygotic twins, have a condition including mental retardation, postnatal somatic retardation, preaxial polydactyly of the feet, bifid third metacarpal, median cleft...
Achondroplasia in sibs of normal parents.
Philip, N, Auger, M, Mattei, J F, Giraud, F
A new case of recurrent achondroplasia in sibs of normal parents is reported. Two sisters and a half sister were affected. Various mechanisms can be postulated to account for unexpected recurrence of...