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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report

Fig. 1

a Pedigree with NAA10 genotypes, repeat length at the AR-locus and X-inactivation pattern. The NAA10 mutation is absent in blood of the parents; the maternal X-inactivation pattern is random, the patient’s pattern is skewed with the paternal allele (276 p) being almost completely digested and the maternal allele (268 bp) almost undigested; b patient at the age of 1 year and 4 months and c 9 years and 6 months; d cMRI at the age of 2 years and 2.5 months shows a moderate dilatation of the ventricular system and extracerebral cerebrospinal fluid (CSF) spaces

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BMC Medical Genetics

ISSN: 1471-2350

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