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Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis
- Source :
- European Journal of Medical Genetics. 59:559-563
- Publication Year :
- 2016
- Publisher :
- Elsevier BV, 2016.
-
Abstract
- A female patient presented with developmental delay, distinctive facial features, and congenital anomalies, including a heart defect and premature lambdoid synostosis. The patient showed a paternally inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving the mitogen-activated protein kinase kinase 2 gene (MAP2K2), in which mutations cause the cardio-facio-cutaneous (CFC) syndrome. Reports of patients with overlapping 19p13.3 microdeletions of this region describe similar clinical manifestations including distinctive facial features: prominent forehead, horizontal/down-slanting palpebral fissures, long midface, pointed chin/angular jaw, sparse eyebrows, and underdeveloped cheekbones. Some of these findings overlapped to that of the patients with 16p13.11 microduplications and CFC syndrome. Although craniosynostosis was occasionally observed in patients with dominant-negative mutations in RAS/MAP kinase signaling genes (RASopathies) related to CFC syndrome, it was also reported in two patients with 16p13.11 microduplications. Genetic contributions of both chromosomal aberrations were discussed.
- Subjects :
- Heart Defects, Congenital
0301 basic medicine
Pathology
medicine.medical_specialty
Prominent forehead
Developmental Disabilities
Karyotype
MAP Kinase Kinase 2
MAP2K2
030105 genetics & heredity
Biology
Craniosynostosis
Craniosynostoses
03 medical and health sciences
Ectodermal Dysplasia
Chromosome Duplication
Female patient
Genetics
medicine
Humans
Abnormalities, Multiple
In patient
Genetics (clinical)
Facies
Infant
General Medicine
Synostosis
medicine.disease
Failure to Thrive
Phenotype
Palpebral fissure
Mutation
Female
CFC SYNDROME
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 16
Subjects
Details
- ISSN :
- 17697212
- Volume :
- 59
- Database :
- OpenAIRE
- Journal :
- European Journal of Medical Genetics
- Accession number :
- edsair.doi.dedup.....6194291e15ec332c1400d9cbb68314b8