Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb
| Autor: | Sascha Vermeer, B W M van Bon, Carlo M. Marcelis, R. Pfundt, N. de Leeuw, A.P.M. de Brouwer, Janneke H M Schuurs-Hoeijmakers, Bert B.A. de Vries |
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| Rok vydání: | 2009 |
| Předmět: |
Proband
Pregnancy Pediatrics medicine.medical_specialty Genetics and epigenetic pathways of disease [NCMLS 6] business.industry Birth weight Occiput Sister Microdeletion syndrome medicine.disease Genomic disorders and inherited multi-system disorders [IGMD 3] medicine.anatomical_structure Hypospadias Failure to thrive Genetics medicine medicine.symptom business Genetics (clinical) |
| Zdroj: | Journal of Medical Genetics, 46, 421-3 Journal of Medical Genetics, 46, 6, pp. 421-3 |
| ISSN: | 1468-6244 0022-2593 |
| Popis: | With great interest we read the article of Malan et al , who reported on a novel clinically recognisable 19q13.11 microdeletion syndrome.1 Here we report on a fifth patient with an interstitial deletion overlapping the 19q13.11 region and compare our findings with those described by Malan et al . The proband was born after 37 weeks of gestation as one of dizygotic twins with a birth weight of 1620 g (−3.5 SD). His twin sister had a normal birth weight of 2290 g (p25). They were the first children of healthy non-consanguineous parents. Pregnancy was complicated by intrauterine growth retardation. At birth the proband had cutis aplasia over the posterior occiput, hypospadias, abnormal positioning of the feet, and a third nipple on the left side of the chest (the latter was also present in the father) whereas no dysmorphisms were reported in his sister. During the first years of life, feeding difficulties, failure to thrive, and psychomotor delay were noted: he sat independently at 2 years of age, started crawling at the same age, and started walking at the age of 3 years and 10 months. Because of fatigue, he was able to walk short distances only, and walked with a stiff gait. He suffered from recurrent airway infections. At the age of 4 years and 10 months he could not speak, but was able to communicate with pictograms. He had hypermetropia (+3D/+4D) similar to his sister. At … |
| Databáze: | OpenAIRE |
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