Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 10 de 10
Filter
1.
Am J Med Genet ; 104(3): 204-8, 2001 Dec 01.
Article in English | MEDLINE | ID: mdl-11754045

ABSTRACT

We report on a young male with mental retardation, slightly upslanting palpebral fissures, strabismus, high-arched palate, retrognathia, and flat feet. Cytogenetic analysis in addition to fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) showed the presence of a chromosome 10p11.2-->p12.2 duplication. Karyotypes of the parents were normal. Comparison of the clinical findings observed in the present patient with those observed in other reported cases with duplication 10p suggest that the presence of high arched/cleft palate and retrognathia may be related to the 10p11.2-->p12.2 duplication. Also, no critical region for the trisomy 10p syndrome has been delimited.


Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations , Chromosomes, Human, Pair 10/genetics , Abnormalities, Multiple/pathology , Adult , Chromosome Banding , Flatfoot , Gene Duplication , Humans , In Situ Hybridization, Fluorescence , Intellectual Disability , Karyotyping , Male , Palate/abnormalities , Retrognathia
3.
Am J Med Genet ; 95(2): 164-8, 2000 Nov 13.
Article in English | MEDLINE | ID: mdl-11078569

ABSTRACT

We report on a girl with psychomotor retardation, growth retardation, microcephaly, frontal bossing, large ears, small nose, high arched and narrow palate, short neck, and generalized hirsutism. Cytogenetic analysis in addition to fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) showed the presence of a chromosome 7q22-->q31.3 duplication. Comparison with other reported cases shows some resemblance but insufficient to enable us to establish a definite syndrome with specific clinical manifestations. The importance in better analyzing further cases by new molecular cytogenetics techniques is raised.


Subject(s)
Chromosomes, Human, Pair 7 , Gene Duplication , Growth Disorders/diagnosis , Growth Disorders/genetics , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Child , Chromosome Banding , Chromosome Painting , Facies , Female , Hirsutism/diagnosis , Hirsutism/genetics , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Microsatellite Repeats , Nucleic Acid Hybridization , Phenotype , Syndrome
4.
Clin Dysmorphol ; 9(4): 303-5, 2000 Oct.
Article in English | MEDLINE | ID: mdl-11045594

ABSTRACT

We report a male patient with craniosysnostosis, bilateral radial and ulnar hypoplasia, absent thumbs, poikiloderma, and short stature. His parents are first cousins. Although this patient was originally diagnosed as having Baller-Gerold syndrome it is more likely that he has Rothmund-Thomson syndrome or a similar disorder. This report confirms the overlap between these two syndromes, and that Baller-Gerold syndrome is essentially a diagnosis of exclusion.


Subject(s)
Abnormalities, Multiple/pathology , Body Height , Craniosynostoses/pathology , Humans , Infant, Newborn , Male , Radius/pathology , Rothmund-Thomson Syndrome/pathology , Syndrome , Ulna/pathology
5.
Horm Res ; 53(2): 77-82, 2000.
Article in English | MEDLINE | ID: mdl-10971093

ABSTRACT

Molecular defects in the gene encoding steroid 21-hydroxylase (CYP21) result in impairment of adrenal steroid synthesis in patients affected with autosomal-recessive congenital adrenal hyperplasias (CAH). In this study, we report on the molecular screening of six point mutations, large deletions, gene conversion events and duplications in 25 unrelated Lebanese families affected by CAH due to steroid 21-hydroxylase. The methods used (PCR-digestion and southern blot) allowed the detection of 96% of the disease chromosomes. In classical forms, the most frequent mutation was the splice site mutation in intron 2 accounting for 39% of the disease alleles. Gene conversion events accounted for 14% of the alleles, but no large deletions were found. In nonclassical forms, the V281L mutation in exon 7 represent 86% of the tested alleles. Genotype-phenotype correlations were as expected: Delta 8nt, Q318X and gene conversion correspond to SW forms, whereas the intron 2 splice site mutation may give either SW or SV forms; the V281L mutation was responsible for nonclassical forms. The spectrum of mutations underlines the genetic diversity of the Lebanese population. No correlation could be drawn out between mutations and some specific religious communities, except for the Delta 8nt mutation, which is present only in the Christian Maronite group. Molecular study of the CYP21 gene might constitute a good support for clinicians, especially in consanguineous families, for whom we could provide genetic counselling.


Subject(s)
Adrenal Hyperplasia, Congenital/genetics , DNA Mutational Analysis , Adolescent , Adult , Alleles , Blotting, Southern , Child , Child, Preschool , Consanguinity , Exons , Female , Gene Conversion , Gene Deletion , Gene Duplication , Heterozygote , Homozygote , Humans , Infant , Infant, Newborn , Introns , Lebanon , Male , Point Mutation , Polymerase Chain Reaction , RNA Splicing , Steroid 21-Hydroxylase/genetics
6.
Genet Couns ; 9(3): 195-9, 1998.
Article in English | MEDLINE | ID: mdl-9777341

ABSTRACT

We report on a boy with anophthalmia, split hand, oligodactyly, syndactyly and polydactyly: These features are consistent with the diagnosis of the ophthalmo-acromelic syndrome (Waardenburg). However, the hand anomalies have not been reported yet. This observation helps to extend the wide range of expressivity of this rare syndrome.


Subject(s)
Fingers/abnormalities , Hand Deformities, Congenital/pathology , Polydactyly/pathology , Waardenburg Syndrome/pathology , Adult , Consanguinity , Female , Fingers/diagnostic imaging , Hand Deformities, Congenital/diagnostic imaging , Humans , Infant, Newborn , Male , Metacarpus/abnormalities , Metacarpus/diagnostic imaging , Polydactyly/diagnostic imaging , Radiography
7.
J Med Liban ; 46(6): 317-20, 1998.
Article in French | MEDLINE | ID: mdl-10349270

ABSTRACT

The Fragile X syndrome is the most common inherited form of mental retardation. Despite its incidence, which is estimated at 1/4000 boys, only 9 families have been documented so far in Lebanon, of which 3 have been partially investigated. This syndrome therefore seems to be largely ignored by physicians. Although no treatment is yet available for the Fragile X syndrome, the diagnosis of the disorder in a child is essential in order to provide the family with genetic counselling. The most critical point is still to convince the family of the need for such an evaluation and relieve the parents of any feeling of guilt.


Subject(s)
Fragile X Syndrome , Adult , Child, Preschool , Fragile X Syndrome/diagnosis , Fragile X Syndrome/epidemiology , Fragile X Syndrome/genetics , Genetic Testing , Humans , Incidence , Lebanon/epidemiology , Male , Pedigree
8.
J Med Genet ; 34(9): 783-6, 1997 Sep.
Article in English | MEDLINE | ID: mdl-9321771

ABSTRACT

An 18 month old girl was referred to us because of dysmorphic features and psychomotor and growth retardation. On physical examination, she was found to have microcephaly, open fontanelles, a prominent forehead, a flat occiput, hypertelorism, sparse eyebrows, a small nose with a depressed nasal bridge, a bulging philtrum, a thin upper lip, a high arched palate, low set and posteriorly rotated ears, a small mandible, a short neck with a low hair line, and eye malformations. High resolution chromosome analysis identified a de novo direct duplication of the 2p21.00-->p24.2 region. The phenotype of de novo partial trisomy 2p is discussed.


Subject(s)
Chromosome Aberrations , Chromosomes, Human, Pair 2 , Face/abnormalities , Growth Disorders/genetics , Adult , Female , Humans , In Situ Hybridization, Fluorescence , Infant , Infant, Newborn , Male , Pregnancy
9.
Ann Genet ; 40(1): 55-9, 1997.
Article in English | MEDLINE | ID: mdl-9150851

ABSTRACT

The authors describe a boy with a triangular face, wide forehead, telecanthus, large ears, prominent root of the nose, long and bulging philtrum, thin upper lip, everted lower lip, high arched palate, micrognathism, pointed chin, overriding toes, joint laxity, and mild mental retardation. Cytogenetic investigation disclosed the presence of an added chromosome, a very small acrocentric, consisting in the presence of the last band of the short arm of chromosome 17. This anomaly results from a 3:1 mal segregation of a balanced (13q17p) reciprocal maternal translocation leading to a trisomy 17pter. This is a previously undescribed chromosome anomaly.


Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 13 , Chromosomes, Human, Pair 17 , Intellectual Disability/genetics , Translocation, Genetic , Trisomy , Child, Preschool , Face/abnormalities , Humans , Karyotyping , Male , Syndrome
10.
Am J Trop Med Hyg ; 36(1): 22-32, 1987 Jan.
Article in English | MEDLINE | ID: mdl-3812883

ABSTRACT

An analysis was presented for identification of 20 species and subspecies of Leishmania by cellulose acetate electrophoresis data from the enzymes glucose phosphate isomerase, mannose phosphate isomerase, and phosphogluconate dehydrogenase. Most Leishmania could be identified from data of these three enzymes. The CAE data for 20 enzymes from over 300 New and Old World isolates were combined, and an analysis of the data which included calculations of genetic identities and genetic distances was reported. High levels of genetic similarity and low levels of genetic distance were noted among comparisons of local populations of the same Leishmania, and lower levels of similarity and higher levels of distance were noted among intracomplex pairings. The biochemical data suggested that similarities and differences among Leishmania could be quantified as they have been in other organisms. For the most part the data presented were consistent with the taxonomic rankings which were based on morphology, behavior, ecology, and other biochemical data.


Subject(s)
Leishmania/enzymology , Electrophoresis, Cellulose Acetate , Glucose-6-Phosphate Isomerase/isolation & purification , Leishmania braziliensis/enzymology , Leishmania donovani/enzymology , Leishmania mexicana/enzymology , Leishmania tropica/enzymology , Mannose-6-Phosphate Isomerase/isolation & purification , Phosphogluconate Dehydrogenase/isolation & purification
SELECTION OF CITATIONS
SEARCH DETAIL
...