M. A. Mori

Hospital Universitario La Paz

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Pablo Lapunzina

Instituto de Investigación de Enfermedades Raras

Alicia Delicado

Hospital Universitario La Paz

María Palomares

Hospital Universitario La Paz

María Torres

Universidad Autónoma de Madrid

I. López Pajares

Hospital Universitario La Paz

Julián Nevado

Hospital Universitario Nuestra Señora de Candelaria

Luís Fernández

Centre for Biomedical Network Research on Rare Diseases

Elena Mansilla

Hospital Universitario La Paz

I. Pinel

Hospital Universitario La Paz

Sixto García‐Miñaúr

Hospital Universitario La Paz

Cooperative Institutions

Hospital Universitario La Paz

Universidad Autónoma de Madrid

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Centro de Investigación Biomédica en Red

Instituto de Investigación de Enfermedades Raras

Hospital La Paz Institute for Health Research

Universidad Complutense de Madrid

University of Toyama

Pediatrics and Genetics

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Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome

Clinical Genetics (2005)

Luís Fernández Pablo Lapunzina Dolores Arjona I. López Pajares Luis García‐Guereta

The 22q11.2 deletion syndrome is commonly diagnosed using fluorescence in situ hybridization (FISH) with commercial probes. The chromosomal breakpoints and deletion size are subsequently characterized by short tandem repeat (STR) segregation tests or by further FISH probes. Recently, a multiplex ligation‐dependent probe amplification (MLPA) single tube assay was developed to detect deletions of the 22q11.2 region and other chromosomal regions associated with DiGeorge/velocardiofacial syndrome. We have compared the results of these three techniques in a group of 30 patients affected with 22q11.2 deletion syndrome. MLPA correctly called all patients who had been previously diagnosed by FISH. The MLPA results were concordant in all patients with the STR analysis in respect to deletion size. Furthermore, this novel technique resolved seven cases that were undetermined by STR analysis. These results confirm the efficiency of MLPA as a rapid, reliable, economical, high‐throughput method for the diagnosis of 22q11.2 deletion syndrome.

DiGeorge syndrome

Breakpoint

Multiplex

Deletion syndrome

10.1111/j.1399-0004.2005.00493.x

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Citations (92)

Euchromatic variant 16p+. Implications in prenatal diagnosis

Prenatal Diagnosis (2006)

I. López Pajares Olaya Villa Marta Salido M. A. Mori Alicia González

Abstract Background Euchromatic imbalances at the cytogenetic level are usually associated with phenotypic consequences. Among the exceptions are euchromatic variants of chromosome 16 (16p+) with normal phenotype. There is a growing list of euchromatic duplications and deletions involving both G‐positive and G‐negative bands that seem to be phenotypically neutral, but these euchromatic variants are rare. Objective The aim of this report is to describe a new familial case of euchromatic variant 16p+ and to emphasise the misinterpretation of these rare euchromatic variants particularly when ascertained at prenatal diagnosis. Methods and Results Fluorescence in situ hybridisation with clone RP11‐261A7 showed an amplified signal in the larger chromosome 16. This clone contains FLJ43855 gene, similar to sodium‐ and chloride‐dependent creatine transporter. Conclusion So, this 16p+ variant that involves amplification of pseudogenetic sequences is considered a polymorphism in normal individuals. Copyright © 2006 John Wiley & Sons, Ltd.

Euchromatin

Chromosome 16

10.1002/pd.1454

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Citations (8)

A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability

Gene (2013)

Laia Rodríguez‐Revenga Elena Vallespín Irene Madrigal María Palomares Antonio Mǔr

Comparative genomic hybridization

Microarray databases

10.1016/j.gene.2013.02.043

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Citations (16)

Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counselling

The Journal of Maternal-Fetal & Neonatal Medicine (2002)

Pablo Lapunzina Alicia Delicado Maria L. Torres M. A. Mori R. F. Pérez-Pacheco

We report on two abortuses with hydrocephalus due to congenital stenosis of the aqueduct of Silvius. The occurrence of this disorder in two siblings (a male and a female) with normal parents supports the autosomal recessive pattern of inheritance. Such a mechanism of inheritance should be taken into account when counselling families with congenital hydrocephaly due to aqueduct stenosis.

Cerebral aqueduct

Aqueduct

Inheritance

Autosomal recessive inheritance

Aqueductal stenosis

10.1080/713605574

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Citations (1)

Macrocephaly‐cutis marmorata telangiectatica congenita: Report of six new patients and a review

American Journal of Medical Genetics Part A (2004)

Pablo Lapunzina Alba Gairí Alicia Delicado M. A. Mori María Torres

We report on six additional patients with macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC; MIM 602501) and review the literature. This syndrome is a multiple congenital anomalies/mental retardation and overgrowth disorder comprising macrocephaly, cutis marmorata, vascular marks of lip and/or philtrum, syndactyly, hemihypertrophy, CNS anomalies, and developmental delay. Based on the findings in our 6 patients and on 69 patients previously reported we listed the very frequent (observed in >75%), frequent (25-75%), and less frequent (>25%) components of the syndrome.

Macrocephaly

Hemihypertrophy

Syndactyly

10.1002/ajmg.a.30235

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Citations (104)

Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counselling

The Journal of Maternal-Fetal & Neonatal Medicine (2002)

Pablo Lapunzina Alicia Delicado María Torres M. A. Mori R. F. Pérez-Pacheco

Aqueduct

Cerebral aqueduct

Inheritance

Autosomal recessive inheritance

Aqueductal stenosis

10.1080/jmf.12.1.64.66

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Citations (14)

Unusual four‐generation chromosome‐22 rearrangement: When “normality” masks abnormality

American Journal of Medical Genetics Part A (2009)

Julián Nevado María Torres Luís Fernández M. A. Mori Amelia Villa

10.1002/ajmg.a.32892

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Citations (2)

Unusual extra chromosomes in the mother of a 18-trisomy newborn.

PubMed (1969)

M. A. Mori M Sasaki S. Makino S Fujimoto

Trisomy

Source

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Citations (2)

Trisomy 13 in the child of two carriers of a 13/15 translocation

American Journal of Medical Genetics (1985)

M. A. Mori H. Huertas I. Pinel P Giralt M. L. Martínez‐Frías

Abstract We report on an infant girl with trisomy 13 resulting from an inherited 13–15 Robertsonian translocation identified in a family from a small Spanish village of only 2,100 inhabitants. Both parents and several other relatives had a balanced 13–15 translocation.

Trisomy

Robertsonian translocation

10.1002/ajmg.1320200104

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Citations (2)

P11.09: Are genetic findings always responsible for fetal sonographic findings?

Ultrasound in Obstetrics and Gynecology (2016)

C. Martínez‐Payo Y. Nieto Jimenez Elena González Elena Mansilla M. A. Mori

Pregnant, 22 years old, first pregnancy. After the combined first trimester screening and a risk for Trisomy 18 equal 1/110, with a normal translucency and PAPP-A and BHCG extraordinarily low, chorionic villus sampling is performed. The result was Trisomy 15 mosaicism, then, amniocentesis is performed at week 16, for possible placental mosaicism, and the karyotype was normal. In the ultrasound monitoring at week 20, a shortening of the long bones was observed, so that, array-CGH was performed, and the result was: arr 2p25.1p24.3 (from 9,658,053 to 12,302,924) x1, so that, the fetus showed a loss of 2.64 Mb on the short arm of chromosome 2. A search of the possible consequences of this deletion was performed and we did not find any case published. This deletion was considered as uncertain consequences, but possibly pathological, by the size and content in genes. The parents was informed and decided to continue with the pregnancy. During ultrasound monitoring, shortening of the long bones became 4 weeks less that we expected, and in the last weeks of gestation, the fetal weight was in 4 Percentile with normal Doppler study. The baby currently has 8 months old, and only shows a discreet microcephaly. Growth and height are adequate and has an appropriate psychomotor development. This case is interesting because the same gestation, join, placental mosaicism and a fetal genetic anomaly. The first cause growth defects in the fetus and low levels of BHCG and PAPP-A. It is well known that PAPP-A is related with the development of the long bones. Moreover, the fetus is a carrier of an anomaly in their genetic material, of uncertain significance, and not described so far, making it difficult to inform the parents, especially when ultrasound findings are inconclusive.

Amniocentesis

Chorionic villus sampling

Trisomy

10.1002/uog.16600

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Citations (0)