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C Moraine

Publications and source records attributed to C Moraine.

At least 19 recordsLinked to original sources
PubMed1992

X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene.

Kallmann syndrome represents the association of hypogonadotropic hypogonadism with anosmia. This syndrome is from a defect in the embryonic migratory pathway of gonadotropin-releasing hormone synthesizing neurons and olfactory axons. A candidate gene for the X chromosome-linked form of the syndrome was recently isolated by using a positional cloning strategy based on deletion mapping in the Xp22.3 region. With the PCR, two exons of this candidate gene were amplified on the genomic DNAs from 18 unrelated patients affected with the X chromosome-linked Kallmann syndrome. Three different base transitions--all leading to a stop codon--and one single-base deletion responsible for a frameshift were identified. We thus conclude that the candidate gene is the actual KAL gene responsible for the X chromosome-linked Kallmann syndrome. Furthermore, unilateral renal aplasia in two unrelated patients carrying a stop mutation indicates that the KAL gene is itself responsible for this Kallmann syndrome-associated anomaly. The gene is, therefore, also involved in kidney organogenesis. Additional neurologic symptoms in Kallmann patients are also discussed.

Base Sequence↗
PubMed1992

Structural rearrangements of chromosome 13 as additional abnormalities in Burkitt lymphoma and type 3 acute lymphoblastic leukemia.

We report three cases of chromosome 13 rearrangements as additional abnormalities in two patients with Burkitt lymphoma (BL) and one with type 3 acute lymphoblastic leukemia (ALL). Involvement of chromosome 13 has been reported most often as 13q+, without identification of the supplementary chromosomal material; in our three cases with 13q+, we identified two duplications: dup(13)(q13q22) and dup(13)(q21q22).

Aged↗
PubMed1992

Monosomy 6q: report on four new cases.

We report on four patients with partial monosomy of the long arm of chromosome 6: two children presenting with an interstitial deletion del(6)(q14q16), the two others presenting with a terminal deletion del(6)(q25qter). These patients are compared with previous reports in the literature: 16 cases of terminal deletion and 17 cases of interstitial deletion. The deletions most often occur de novo. Mental retardation is always described. Dysmorphic facial features range between minor and major. There may be associated visceral abnormalities. After comparing the size and the localisation of the deletions with clinical data, we are now able to suggest a clinical localisation on chromosome 6.

Adult↗
PubMed1992

[Menkes syndrome. An unusual pigmentation anomaly in a mother and three sisters].

Menkès syndrome is a sex-linked recessive disease. The authors previously reported a case in a boy whose neurologic condition deteriorated gradually until death occurred at the age of seven and a half months. Diagnosis was confirmed by the finding of very low plasma levels of copper and ceruloplasmin. Evaluation of family members disclosed hypopigmentation of one half of the abdomen in three sisters and in the carrier mother. This hypopigmentation may be ascribed to decreased melanocyte copper-dependant tyrosinase activity. Among cells in the body, this anomaly may be present or absent according to whether or not the abnormal X chromosome is inactivated.

Female↗
PubMed1991

[Aplasia cutis after exposure to carbimazole in utero].

The authors report a case of a skin defect in the scalp of a child whose mother took carbimazole during her pregnancy. Including our case there are now 15 congenital scalp defects reported: however, these rare cases do not show that carbimazole should not be used during pregnancy.

Abnormalities, Drug-Induced↗
PubMed1991

[Reinhardt-Pfeiffer mesomelic dysplasia or dyschondrosteosis? Is the distinction well-founded? Apropos of a familial case with variable expression].

A familial observation of Reinhardt-Pfeiffer type mesomelic chondrodysplasia spanning three generations is reported. This case clearly shows that expression of the disease can vary widely within a given family. One member affected as a fetus had a severe form suggesting Langer mesomelic dwarfism syndrome, whereas his mother was free of clinical symptoms and his maternal aunt had a typical form of Reinhardt-Pfeiffer syndrome. Clinical manifestations in the other affected family members were perfectly consistent with dyschondrosteosis syndrome. The very broad spectrum of clinical patterns in this family suggests that there may be connections between the various types of mesomelic dysplasia. Establishing clear-cut distinctions between these entities, although useful in practice, may not accurately reflect molecular anomalies. Furthermore, the family member affected as a fetus also had Turner syndrome, which may have contributed to the severity of his condition. The possibility of identifying severe mesomelic dysplasias antenatally by ultrasonography should be pointed out.

Acrocephalosyndactylia↗
PubMed1991

[Value of ultrasonic diagnosis of fetal malformations in the detection of chromosomal abnormalities].

We report 118 foetal karyotypes studied on the basis of ultrasonographic warning signs which appeared in pregnancies with no significant risk of chromosomal abnormalities, judging from the personal and familial histories. Foetal karyotyping was performed either in amniotic fluid (AF) or in foetal blood. The ultrasonographic warning signs fell into 3 categories: (1) intrauterine growth retardation (IUGR) which was harmonious and below the 5th percentile, without foetal malformation at ultrasonography and without maternal cause (doppler examination, normal Pourcelot's index): 30 cases (24.4%). IUGR was isolated in 22 cases and associated in 8 cases with abnormal amounts of amniotic fluid: oligoamnios 6, hydramnios 2; (2) Isolated abnormality of AF volume: 22 cases (18.8%); hydramnios 19 and oligoamnios 3; (3) Foetal malformations in 66 cases (56%), including 16 central nervous system malformations, 4 cystic hygromas, 10 urinary tract malformations, 9 foetal effusions, 9 abdominal wall abnormalities, 7 gastrointestinal malformations, 5 malformations of the limb and 3 cardiac malformations. The mothers' mean age was 27.5 +/- 4.5 years; the mean term of pregnancy at the time of foetal karyotyping was 28 +/- 6.5 AW. In 51% of the cases the ultrasonographic warning sign was discovered after 29 AW. Among the 118 foetal karyotypes studied, 12 chromosomal abnormalities (10.6%) were detected. During the same period, 712 foetal karyotypes were studied in women aged 38 or more and 18 chromosomal abnormalities (2.53%) were detected. This study confirms that more chromosomal abnormalities can be detected by ultrasonographic warning signs than by relying on the mother's age which is the most frequent reason for foetal karyotype studies. Ultrasonography performed during the second trimester of pregnancy is of value to evaluate foetal growth and the amount of AF and to investigate for possible foetal malformations.

Adult↗
PubMed1990

Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.

Kallmann syndrome is a genetically heterogeneous disease characterized by hypogonadotropic hypogonadism and anosmia. Six families in which the disorder followed an X-linked inheritance were investigated by linkage analysis. Diagnostic criteria were uniformly applied and included tests for hypogonadotropic hypogonadism and anosmia. Close linkage was found by using the hypervariable repeated sequence CRI-S232 (DXS278) previously mapped to Xp22.3. At a maximum lod score of 6.5, the recombination fraction was calculated as .03. Of 30 fully informative meioses, one recombination between the disease locus and the loci recognized by probe CRI-S232 was observed. When an independent approach is used, these results confirm the X-linked Kallmann syndrome assignment previously made by deletion mapping, and allow definitive localization of the syndrome assignment previously made by deletion mapping, and allow definitive localization of the syndrome to the Xp22.3 region. This opens the way to carrier detection and to the identification of a gene responsible for this disorder.

Chromosome Mapping↗
PubMed1988

Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.

We report eight cases of a lethal association of failure to thrive, facial dysmorphism, ambiguous genitalia, syndactyly, postaxial polydactyly, and internal developmental anomalies (Hirschsprung's disease, cardiac and renal malformation). This syndrome is likely to be autosomal recessive and resembles Smith-Lemli-Opitz (SLO) syndrome. However, the lethality, the common occurrence of polydactyly, and the sexual ambiguity distinguishes this condition from SLO syndrome. A review of published reports supports the separate classification of this syndrome for which we propose the name lethal acrodysgenital dwarfism.

Abnormalities, Multiple↗
PubMed1986

Choanal atresia and deafness.

Nine cases of bilateral choanal atresia are reported. The association with other malformations and deafness is evaluated. The choanal atresia is associated with multiple malformation in two cases and bilateral deafness in 5 cases. Before discussing surgery, a complete evaluation has to be performed, deafness has to be evaluated with modern electrophysiological methods. The risks of the surgery should be considered in case of cardiac malformation and cerebral anoxia.

Abnormalities, Multiple↗
PubMed1978

[Hemifacial microsomia and cardiac malformations. Apropos of 2 cases].

The authors report two cases of infants with complex heart disease comprising transposition of the great vessels, and a major unilateral facial anomaly involving the ear and the mandible, conforming to the description of hemifacial microsomia. The facial anomalies seen are defined and placed in the classification of known syndromes. The incidence of heart disease associated with facial microsomia is about 20% and in 2/3 of cases it is a ventricular septal defect or a tetralogy of Fallot. An analysis of aetiological factors shows that syndromes of the first two branchial arches are usually sporadic and that they may be the result of intra-uterine disease. The mechanism of the facial lesions is probably vascular.

Abnormalities, Multiple↗