[Analysis of Bcl I polymorphism of factor VIII gene in the molecular diagnosis of female hemophilia A carriers in families from northwestern Venezuela]. / Análisis del polimorfismo Bcl I del gen del factor VIII en el diagnóstico molecular de portadoras de Hemofilia A en familias del noroccidente de Venezuela.

PURPOSE: To identify carrier females in segregant families of haemophilia A from Zulia state-Venezuela. PATIENTS AND METHODS: The polymorphisms' analysis linked to the gene, independently of the mutation nature is the most suitable method to identify carriers, because it permits to track the mutated gene. This study is comprised of 139 ADN samples distributed in 20 families affected by haemophilia A. The diagnosis of carrier was made by polymerase chain reaction (PCR), a fragment of 142 pb corresponding to intron 18 of the factor VIII gene, which shows a restriction polymorphism for the Bcl I enzyme. RESULTS: The frequency of the Bcl I alleles in the 43 unrelated individuals was 0.35 and 0.65 for the 142 pb and 99 + 43 pb, respectively. In the 35 women that required diagnosis, we were able to establish the carrier status for 11, and 4 were excluded to be. CONCLUSIONS: The Bcl I polymorphism at the FVIII gene was useful in the 43% (15/35) of the women that required diagnosis. It's possible to identify carriers for haemophilia A in most of the families from Zulia state-Venezuela employing several polymorphisms at the Factor VIII gene.

[Pfeiffer syndrome associated with clover-leaf skull: 1st case described in Venezuela]. / Síndrome de Pfeiffer asociado a cráneo en trébol: primer caso descrito en Venezuela.

In 1964, Pfeiffer described a syndrome consisting of craniosynostosis, broad thumbs, broad great toes, and partial soft tissue syndactyly of the hands and feet. It belongs to acrocephalosyndactyly syndromes. We describe a male baby product of an eighth full-term uncomplicated uncontrolled pregnancy, mother and father normal and unrelated, 32 and 50 years old, respectively. He had all diagnostic and prognostic criteria of Subtype 2 Pfeiffer's Syndrome. The clinical, radiological, tomographic, and genetic aspects are discussed.

[Hypoplasia of the tibia, polydactyly, and triphalangeal thumb: 1st family described in Venezuela]. / Hipoplasia de tibia, polidactilia y pulgar trifalángico: primera familia descrita en Venezuela.

Werner in 1915, described a patient is characterized by a tibial bilateral aplasia or hypoplasia, polydactyly and absent thumbs. Autosomal dominant inheritance is demonstrated, with variable expressivity. The objective of this work is to describe a child with clinic and radiologic signs of Tibial Hypoplasia with Polydactyly. The genealogic study allowed us to suppose that the gene has a variable expressivity, since in the maternal branch, malformations such as syndactyly of hands, proximal implantation of thumbs and tibiae vara, have been found. The clinic, radiologic, and genetic aspects are discussed.

Factores prenatales y defectos congenitos en una poblacion de 7,791 recien nacidos consecutivos. / Prenatal factors and congenital defects in a population of 7,791 consecutive mewborn infants

El presente trabajo comprendido dentro del proyecto general reconocible bajo el acrostico DENOPREDEC que significa deteccion, nosonomia y prevencion de detectos congenitos, analiza la interralacion entre un grupo seleccionado de factores prenatales y defectos congenitos (DC). En 7,791 recien nacidos vivos consecutivos de un hospital de ginecobstetricia del IMSS, se observaron 100 DC (12.8 por 1,000), incidencia similar a otras descritas previamente en la literatura. Las variables analizadas comparativamente entre el grupo de DC y un grupo testigo, no mostraron diferencias significativas en lo que respecta a sexo, edad parenteral, consanguinidad paridad, DC previos en la familia, antecedentes de factores fisicos, quimicos y enfermedad cronica. Se observaron diferencias significativas entre ambos grupos en los antecedentes de parto distocico y de enfermedad aguda, especificamente viral lo que permite definir grupos de riesgos y proponer medidas practicas para un mejor asesoramiento genetico en DC

Sindrome progeroide tricooculo-dentomandibular. / Progeria tricho-oculodentomandibular syndrome

Se decribe una nina de 12 anos con un sindrome caracterizado por facies senil, talla baja, alopecia parcial, catarata bilateral, nariz prominente, defecto en la erupcion dentaria, microrretrognatia hipertrofia gingival, hiperelasticidad articulas y disminucion del tejido celular subcutaneo. El diagnostico diferencial que incluyo principalmente los diferentes sindromes progeroides, permitio concluir que este sindrome probablemente no ha sido descrito previamente en la literatura medica

Sindrome de Holt: una malformacion acral heterogenea autosomica dominante. / Holt's syndrome : dominant autosomic heterogeneous acral malformation

Se describe una familia que presento en un progenitor braquidactilia tipo "E" y en una hija polidactilia postaxial tipo "A".Esta observacion confirma una disostosis autosomica dominante heterogenea caracterizada por braquidactilia polisindactilia, descrita por Holt, cuyo nombre se propone para designar el sindrome

Further clinical and radiological features in metaphyseal chondrodysplasia Jansen type.

A case of metaphyseal chondrodysplasia Jansen Type is reported. Clinical and radiological features of this case are presented, and are compared with the 12 cases of this syndrome that have been previously reported.

Trisomy 22q12 leads to qter: "aneusomie de recombinaison" of a pericentric inversion.

A 10-day-old girl affected with 22q12 leads to qter "pure" trisomy as a consequence of recombination within a maternal pericentric inversion (22)(p13q12) is described. A phenotypical comparative analysis reveals that the proposita's phenotype is strikingly similar to that of the trisomy 22 syndrome. Arylsulphatase-A activity was above normal levels and interpreted to be the result of a triple dosage of the gene, whose localization would be within the 22q12 leads to qter segment. It is concluded that the segment 22q12 leads to qter, rather than band q11 as previously suggested, plays an important role in determining the phenotypical abnormalities which characterize the trisomy 22 syndrome.

Hiperfenilalaninemia. A proposito de tres casos. / Hyperphenylalaninemia.Apropos of 3 cases

Se hizo un estudio a una familia en la que tres hermanos, dos mujeres y un varon, de 16, 12 y 14 anos de edad respectivamente, presentaban retardo mental profundo.De las pruebas cualitativas para la investigacion de los errores metabolicos congenitos las de clorudo ferrico, tira reactiva para determinar fenilalanina y 2,4-dinitrofenilhidrazina fueron positivas en las muestras de orina de los tres pacientes, sugiriendo la excrecion de acido fenilpiruvico, catabolito de la fenilalanina. La cromatografia en papel y en capa fina de muestras de orina, mostro grandes cantidades de fenalalanina. Los resultados de la cuantificacion de los niveles plasmaticos de fenilalanina y tirosina por cromatografia en columna, fueron de 43.6, 34.7 y41.8 y de 1.2, 0.6 y 10 mg/100 ml, respectivamente. El analisis de los datos clinicos y bioquimicos encontrados en estos pacientes y su comparacion con los informados en la literatura para los nueve diferentes tipos de hiperfenilalaninemia, es compatible con um diagnostico de hiperfenilalaninemia tipo I

Glucose-6-phosphate dehydrogenase deficiency and abnormal hemoglobins in Mexican newborns with jaundice.

Se presentan los resultados de las pruebas de tamizaje para la deteccion de deficiencia de G6PD y hemoglobinas anormales efectuadas en muestras de sangre de 1321 y 1022 recien nacidos con y sin ictericia, respectivamente.Los resultados sugieren que la asociacion de ictericia neonatal con deficiencia de G6PD o hemoglobinas anormales no constituye un problema de salud publica en la poblacion mexicana

[Cleidocranial dysplasia]. / Displasia cleodocraneal.

Five sporadic cases of cleidocranial dysostosis are described. Besides the classical findings, the clinical and roentgenological evaluation showed bilateral macrodactily of the second toe, aplasia of the 12th rib and severe acetabular dysplasia. This features had not been previously reported in medical literature. The importance of an early diagnosis is stressed for adequate orthopedic and odontologic management, as well as for opportune genetic counseling.