2008
DOI: 10.1002/ajmg.a.32414
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Subtelomeric 6p deletion: Clinical and array‐CGH characterization in two patients

Abstract: We report on two patients with de novo subtelomeric terminal deletion of chromosome 6p. Patient 1 is an 8-month-old female born with normal growth parameters, typical facial features of 6pter deletion, bilateral corectopia, and protruding tongue. She has severe developmental delay, profound bilateral neurosensory deafness, poor visual contact, and hypsarrhythmia since the age of 6 months. Patient 2 is a 5-year-old male born with normal growth parameters and unilateral hip dysplasia; he has a characteristic fac… Show more

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Cited by 32 publications
(40 citation statements)
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“…The presence of ASD is reported in 83% of 6p25 deletion syndrome patients (present in 49 out of 59 reported cases, see Table 1). 10,11,[13][14][15][27][28][29][30][31][32][33][34][35] Iris coloboma has been reported in few patients with isolated 6p25 deletion. 14,31 Glaucoma is a common finding, present in about half of patients.…”
Section: Asdmentioning
confidence: 99%
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“…The presence of ASD is reported in 83% of 6p25 deletion syndrome patients (present in 49 out of 59 reported cases, see Table 1). 10,11,[13][14][15][27][28][29][30][31][32][33][34][35] Iris coloboma has been reported in few patients with isolated 6p25 deletion. 14,31 Glaucoma is a common finding, present in about half of patients.…”
Section: Asdmentioning
confidence: 99%
“…14,[27][28][29][30][31] Retinal anomalies, in particular pigmentary changes, have been reported in about 24%. 10,14,15,27,29,30,32,35,36 Craniofacial dysmorphism Almost all 6p25 deletion patients have some form of craniofacial dysmorphism. The typical facial appearance consists of hypertelorism (present in 93%), downslanting palpebral fissures (69%), and midface hypoplasia with flat, broad nasal bridge (77%).…”
Section: Asdmentioning
confidence: 99%
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