[Identifying deletions in the dystrophin gene and detecting carriers in families with Duchenne's/Becker's muscular dystrophy]. / Identificación de deleciones en el gen de la distrofina y detección de portadoras en familias con distrofia muscular de Duchenne/Becker.

INTRODUCTION: Between 60 and 65% of the mutations that cause Duchenne's/Becker's muscular dystrophy (DMD/BMD) are deletions in the dystrophin gene. Identifying deletions confirms the diagnosis and allows carriers to be detected with precision, which is the main preventive resource. The frequency and distribution of deletions in the DMD gene is unknown in south-east Mexico. AIMS: To identify deletions in the DMD gene and to detect carriers in families with DMD/BMD in south-east Mexico. PATIENTS AND METHODS: The study involved 26 families that showed clinical signs of DMD/BMD: Deletions were determined in the DNA of 40 males by means of the multiple polymerase chain reaction (PCR) in 22 segments of the gene. Detection of carriers was applied to 33 female relatives using PCR-restriction fragment length polymorphism of the polymorphic markers Pert 87.8/Taq 1, pERT 87.15/Bam H1, and single PCR for VNTR MP1P by linkage analysis. RESULTS: Deletions were identified in 67.5% of patients with DMD and they were located in the 5' end and in the central region, exons 44 to 52, of the gene. In the detection of carriers, 73.33% of the families were informative. The markers 87.8/Taq 1 and MPIP yielded the greatest information power, with 26.67 and 33.33%, respectively. Of a total of 33 females, 21 (63.64%) were carriers, one (3.03%) was a non-carrier and 11 (33.33%) were not informative. CONCLUSIONS: The frequency of deletions was 67.5%. Carrier status was determined in 66.67% of the females who were analysed. The markers pERT 87.8/Taq 1 and MP1P yielded the greatest information power.

Identificación de deleciones en el gen de la distrofina y detección de portadoras en familias con distrofia muscular de Duchenne/Becker / Identifying deletions in the dystrophin gene and detecting carriers in families with duchenne's/becker's muscular dystrophy

Introducción. Del 60 al 65% de las mutaciones que causan distrofia muscular de Duchenne/Becker (DMD/DMB)corresponden a deleciones en el gen de la distrofina. La identificación de deleciones confirma el diagnóstico y permite la detección precisa de portadoras, que es el recurso principal de prevención. En el sudeste de México se desconoce la frecuencia y distribución de las deleciones del gen DMD. Objetivos. Identificar deleciones del gen DMD y detectar portadoras en familiascon DMD/DMB del sudeste de México. Pacientes y métodos. Se incluyeron 26 familias cuyo propósito mostró signos clínicos de DMD/DMB. Las deleciones se determinaron en el ADN de 40 varones mediante reacción en cadena de la polimerasa (PCR) múltiple de 22 segmentos del gen. La detección de portadoras se aplicó a 33 familiares femeninos con PCR mediante polimorfismo de longitud de fragmentos de restricción de los marcadores Pert 87.8/Taq 1, pERT 87.15/Bam H1, y PCR simplepara el VNTR MPIP mediante análisis de ligamiento. Resultados. Las deleciones se identificaron en el 67,5% de pacientes con DMD y se localizaron en el extremo 5’ y en la región central, exones 44 al 52, del gen. En la detección de portadoras, el 73,33% de las familias resultó informativo. Los marcadores 87.8/Taq I y MPIP arrojaron el mayor poder de información, con el 26,67 y el 33,33%, respectivamente. De 33 mujeres, 21 (63,64%) resultaron portadoras, una (3,03%) no portadora y 11 (33.33%) no fueron informativas. Conclusión. La frecuencia de deleciones fue del 67,5%. Se determinó el estado de portador en el 66,67% de las mujeres analizadas. Los marcadores pERT 87.8/Taq 1 y MPIP arrojaron el mayor poder de información

Introduction. Between 60 and 65% of the mutations that cause Duchenne’s/Becker’s muscular dystrophy (DMD/BMD)are deletions in the dystrophin gene. Identifying deletions confirms the diagnosis and allows carriers to be detected with precision, which is the main preventive resource. The frequency and distribution of deletions in the DMD gene is unknown in south-east Mexico. Aims. To identify deletions in the DMD gene and to detect carriers in families with DMD/BMD in south-eastMexico. Patients and methods. The study involved 26 families that showed clinical signs of DMD/BMD. Deletions were determined in the DNA of 40 males by means of the multiple polymerase chain reaction (PCR) in 22 segments of the gene. Detection of carriers was applied to 33 female relatives using PCR-restriction fragment length polymorphism of the polymorphicmarkers Pert 87.8/Taq 1, pERT 87.15/Bam H1, and single PCR for VNTR MP1P by linkage analysis. Results. Deletionswere identified in 67.5% of patients with DMD and they were located in the 5’ end and in the central region, exons 44 to 52, of the gene. In the detection of carriers, 73.33% of the families were informative. The markers 87.8/Taq 1 and MPIP yielded thegreatest information power, with 26.67 and 33.33%, respectively. Of a total of 33 females, 21 (63.64%) were carriers, one (3.03%) was a non-carrier and 11 (33.33%) were not informative. Conclusions. The frequency of deletions was 67.5%. Carrier status was determined in 66.67% of the females who were analysed. The markers pERT 87.8/Taq 1 and MP1P yielded the greatest information power

[Spectrum of congenital malformations observed in neonates of consanguineous parents]. / Espectro de malformaciones congénitas observadas en recién nacidos de progenitores consanguíneos.

INTRODUCTION: Consanguineous unions occur in all populations around the world. Couples related as second cousins or closer have been observed with deleterious effect. Among the clinical effects of parental consanguinity, the incidence of offspring with congenital malformations (CM) increases approximately two-fold. MATERIALS AND METHODS: A hospital database of neonates with CM was searched to select neonates with parental consanguinity and two control groups. One control group consisted of healthy neonates and the other control group consisted of neonates with CM but without parental consanguinity. Both control groups consisted of the first neonate of the same sex to be born after a consanguineous neonate with CM. Family, sociodemographic and anthropometric variables, as well as the severity of the malformations, were compared between the two groups with CM. Neonates with CM were grouped into five categories: Major multiple CM, minor multiple CM, isolated major CM, isolated minor CM, and specific diseases. The indigenous Mayan subpopulation was also analyzed. RESULTS: Among 1117 neonates with CM, parental consanguinity was found in 21. Parental consanguinity was also found in 8 neonates in the group of healthy controls (OR 2.4 [1.05-5.95]). The most common form of consanguinity was between second cousins and was more frequent in the Mayan subpopulation. Major multiple CM were more frequent among consanguineous than among nonconsanguineous couples. No association was found between the severity of CM and the degree of relationship. CONCLUSIONS: The prevalence of consanguinity found in neonates with CM and healthy controls (1.9 % and 0.8 %) was similar to that found in other Latin populations. A higher prevalence was found in the Mayan population. Mayor multiple CM were more frequent among the neonates of consanguineous than among nonconsanguineous couples.

Espectro de malformaciones congénitas observadas en recién nacidos de progenitores consanguíneos / Spectrum of congenital malformations observed in neonates of consanguineous parents

Introducción Las uniones consanguíneas ocurren en todas las poblaciones, las de primos segundos o con parentesco más cercano son las que se han observado con influencia genética. Entre las posibles consecuencias clínicas, se estima que se incrementa al doble el riesgo de tener descendencia con malformaciones congénitas (MC). Material y métodos De un registro hospitalario de recién nacidos (RN) con MC, se seleccionó a los que tuvieron antecedente de consanguinidad, y dos grupos controles, uno sano y otro malformado sin antecedentes de consanguinidad, correspondiente a los nacimientos siguientes al malformado consanguíneo del mismo sexo. Se analizaron variables familiares, sociodemográficas y antropométricas, así como la gravedad de las MC entre los dos grupos malformados. Los RN con MC se agruparon en cinco categorías: MC múltiples mayores (MC Múlt1), MC múltiples menores (MC Múlt­), MC aisladas mayores (MC Ais1), MC aisladas menores (MC Ais­), y patologías específicas. Adicionalmente, se analizó a la subpoblación indígena maya. Resultados De 1.117 RN con MC, se encontró antecedente de consanguinidad en 21, y 8 entre los controles sanos, odds ratio 2,4 (1,05-5,95). El grado de parentesco más frecuente fue el de primos segundos, con mayor frecuencia de consanguinidad en el grupo étnico maya. Se encontró mayor número de afectados malformados múltiples entre las uniones consanguíneas, que entre las no consanguíneas. No hubo relación entre la gravedad de las MC y el parentesco. Conclusiones La prevalencia de consanguinidad de 1,9 y 0,8 % encontradas entre RN malformados y controles es similar a la de otras poblaciones latinas. El grupo étnico maya presentó mayor prevalencia, y las MC múltiples mayores fueron más frecuentes entre los malformados consanguíneos que entre los no consanguíneos

Introduction Consanguineous unions occur in all populations around the world. Couples related as second cousins or closer have been observed with deleterious effect. Among the clinical effects of parental consanguinity, the incidence of offspring with congenital malformations (CM) increases approximately two-fold. Materials and methods A hospital database of neonates with CM was searched to select neonates with parental consanguinity and two control groups. One control group consisted of healthy neonates and the other control group consisted of neonates with CM but without parental consanguinity. Both control groups consisted of the first neonate of the same sex to be born after a consanguineous neonate with CM. Family, sociodemographic and anthropometric variables, as well as the severity of the malformations, were compared between the two groups with CM. Neonates with CM were grouped into five categories: Major multiple CM, minor multiple CM, isolated major CM, isolated minor CM, and specific diseases. The indigenous Mayan subpopulation was also analyzed. Results Among 1117 neonates with CM, parental consanguinity was found in 21. Parental consanguinity was also found in 8 neonates in the group of healthy controls (OR 2.4 [1.05-5.95]). The most common form of consanguinity was between second cousins and was more frequent in the Mayan subpopulation. Major multiple CM were more frequent among consanguineous than among nonconsanguineous couples. No association was found between the severity of CM and the degree of relationship. Conclusions The prevalence of consanguinity found in neonates with CM and healthy controls (1.9 % and 0.8 %) was similar to that found in other Latin populations. A higher prevalence was found in the Mayan population. Mayor multiple CM were more frequent among the neonates of consanguineous than among nonconsanguineous couples

Frequency of the thermolabile variant C677T in the MTHFR gene and lack of association with neural tube defects in the State of Yucatan, Mexico.

The C677T variant in the MTHFR gene is considered to be an associated risk factor for neural tube defects. However, the association has not been found in some ethnic groups. In order to assess the association between neural tube defects and the C677T variant, we determined the frequency of this variant in the MTHFR gene in the State of Yucatan, Mexico, where neural tube defects are highly prevalent. The study was performed on 65 subjects with spine bifida, 60 of their mothers and 110 control subjects. The presence of the C677T variant was determined by amplification and digestion with HinF1 of each subject's DNA. Genotypic and allelic frequencies were calculated for all groups. We did not observe any statistically significant difference in the genotypic or allelic frequencies between cases and controls for any of the groups studied (p > 0.05), suggesting that the thermolabile variant C677T is not an associated risk factor neither for the development of neural tube defects nor for mothers to have affected offspring in the population from Yucatan. Interestingly, the frequency of the C677T variant (54%) obtained in the Yucatan population is one of the highest reported (p < 0.01) and confirmed the high frequency of this allele throughout Mexico.

Full mosaic monosomy 22 in a child with DiGeorge syndrome facial appearance.

We describe an abnormal premature male infant with mosaic monosomy of chromosome 22. He had a unique facial appearance, similar to those with DiGeorge syndrome, and hypertonicity, limitation of extension at major joints, and flexion contractures of all fingers. This rare chromosomal aberration has been reported previously in 6 cases, three of them being nonmosaic and three mosaic patients. There was a great variability of expression among the anomalies of these patients. However, the most common anomalies were in the face and joints. A correlation between the severity of expression and percent of monosomic cells was not clear.

[Cytogenetic research in couples with recurrent spontaneous gestational losses]. / Investigación citogenética en parejas con péridadas gestacionales espontáneas recurrentes (PGER).

The most common complication of pregnancy is fetal wastage in any of its manifestations. One of the causes of these reproductive losses is the presence of parental chromosomal aberration. The diagnosis of this cause permits appropriate specific risk for the couple reproduction. In this study, cytogenic analysis were performed to a group of couples with fetal wastage of unknown, to know whether some parental chromosomic aberrations were the etiologic cause of them. Were included 173 couples with two or more reproductive failures. In all couples, metaphase chromosome analysis of peripheral blood was performed, with trypsin-Giemsa banding and C standing. In five women (2.9%) it was found some chromosomal aberration. In all the men and in 168 women the karyotype was normal. In 2.8% of all the subjects it was found some polimorphic chromosome. Routinary chromosomal survey realized to couples with pregnancy looses of unknown cause is important to identify individuals carrying some chromosomal aberration.

A new case of Klippel-Trenaunay-Weber (KTW) syndrome: evidence of autosomal dominant inheritance.

Most cases of KTW syndrome are sporadic. However, in a few, other family members have some clinical manifestations of the syndrome, and an autosomal dominant mode of inheritance has been suggested. In this paper we present a family with an affected child who has large skin hemangiomata, overgrowth of the right leg, and severe heart defects. Her mother has a large capillary hemangioma on the left side of back and has developed severe varicosities in both lower extremities. The maternal grandmother developed severe varicosities in her legs at a young age. The clinical signs found in the mother and maternal grandmother represent a milder phenotype and might be explained as variable expressivity of the syndrome. The family tree supports autosomal dominant inheritance.