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2.
Am J Med Genet A ; 164A(9): 2378-84, 2014 Sep.
Article in English | MEDLINE | ID: mdl-24898331

ABSTRACT

The chromosomal segment 6q24-q25 comprises a contiguous gene microdeletion syndrome characterized by intrauterine growth retardation, growth delay, intellectual disability, cardiac anomalies, and a dysmorphic facial phenotype. We describe here a 10-year follow-up with detailed clinical, neuropsychological, and cytomolecular data of two siblings, male and female, who presented with developmental delay, microcephaly, short stature, characteristic facial dysmorphisms, multiple organ anomalies, and intellectual disability. Microarray analysis showed an 8.5 Mb 6q24.2-q25.2 interstitial deletion. Fluorescence in situ hybridization analyses confirmed the deletions and identified an insertion of 6q into 8q13 in their father, resulting in a high recurrence risk. This is the first report in sibs with distinct neuropsychological involvement, one of them with stenosis of the descending branch of the aorta.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 6/genetics , Cytogenetic Analysis , Fathers , Inheritance Patterns/genetics , Mutagenesis, Insertional/genetics , Siblings , Adolescent , Base Pairing/genetics , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Infant, Newborn , Male
3.
Meta Gene ; 2: 799-806, 2014 Dec.
Article in English | MEDLINE | ID: mdl-25606462

ABSTRACT

Rearrangements in chromosome 19 are rare. Among the 35 patients with partial 19q trisomy described, only six have a breakpoint defined by array. The 19q duplication results in a variable phenotype, including dysmorphisms, intellectual disability and seizure. In a female patient, although G-banding at 550 band-resolution was normal, multiplex ligation-dependent probe amplification (MLPA) technique and genomic array showed a 10.6 Mb terminal duplication of chromosome 19q13. Fluorescent in situ hybridization (FISH) revealed that the duplicated region was attached to the short arm of chromosome 21 and silver staining showed four small acrocentrics with nucleolar organization region (NOR) activity, suggesting that the breakpoint in chromosome 21 was at p13. This is the first de novo translocation between 19q13.33 and 21p13 described in liveborn. The chromosome 19 is known to be rich in coding and non-coding regions, and chromosomal rearrangements involving this chromosome are very harmful. Furthermore, the 19q13.33→qter region is dense in pseudogenes and microRNAs, which are potent regulators of gene expression. The trisomic level of this region may contribute to deregulation of global gene expression, and consequently, may lead to abnormal development on the carriers of these rearrangements.

4.
Neuromuscul Disord ; 23(5): 388-90, 2013 May.
Article in English | MEDLINE | ID: mdl-23453857

ABSTRACT

We report a 3-year-old female with type I spinal muscular atrophy (SMA) born to a young and non-consanguineous couple. The child presented at two months of life with intense muscle weakness affecting predominantly proximal portions of the limbs, especially the legs, muscle hypotonia, fasciculation of the tongue, and severe respiratory muscle involvement. She remained in an intensive care unit with an assisted ventilation system from the fourth month of life. She died at 3 years of age from pulmonary infection. Molecular analysis confirmed the diagnosis of SMA but revealed that only the father was an asymptomatic carrier. Because SMN1 is mapped in a complex region containing repetitive elements due to an inverted duplication of approximately 500 kb, we carry out an SNP array and detected a 1.3 Mb deletion including the SMN1 and SMN2 genes that explain the disease.


Subject(s)
Muscular Atrophy, Spinal/genetics , SMN Complex Proteins/genetics , Sequence Deletion/genetics , Survival of Motor Neuron 1 Protein/genetics , Survival of Motor Neuron 2 Protein/genetics , Child, Preschool , Fatal Outcome , Female , Genetic Counseling/methods , Humans , Muscular Atrophy, Spinal/diagnosis , Polymorphism, Single Nucleotide/genetics , Polymorphism, Single Nucleotide/physiology
5.
Am J Med Genet B Neuropsychiatr Genet ; 159B(7): 823-8, 2012 Oct.
Article in English | MEDLINE | ID: mdl-22911893

ABSTRACT

The proximal regions of acrocentric chromosomes, particularly 15q11.2, are frequently involved in structural rearrangement. However, interstitial duplications involving one of the chromosome 15 homologues are less frequent, with few patients described with molecular techniques. These patients present distinctive clinical findings including developmental delay and intellectual disability, minor dysmorphic facial features, epilepsy, and autistic behavior. Here we describe an interstitial rearrangement of chromosome 15 composed of a triplication -6.9 Mb from 15q11.2 to 15q13.2 followed by a duplication of -2.4 Mb from 15q13.2 to 15q13.3, defined using different approaches as MLPA, qPCR, array and FISH. FISH revealed that the middle part of the triplicated segment was in inverted position. The parental origin of the rearrangement was assessed using methylation assay and SNP array that revealed the maternal origin of the additional material. The patient presents most of the clinical features associated to 15q11.2 triplication: minor dysmorphic facial features, generalized epilepsy, absence seizures, intellectual disability, and autistic behavior. In conclusion, the use of more accurate molecular tools enabled a detailed investigation, providing the identification of intrachromosome duplication/triplication and bringing new light to the study of genetic causes of autistic disorders.


Subject(s)
Chromosome Aberrations , Chromosomes, Human, Pair 15/genetics , Phenotype , Adolescent , Autistic Disorder/genetics , Developmental Disabilities/genetics , Humans , In Situ Hybridization, Fluorescence , Intellectual Disability , Male
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