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Fig. 1 | BMC Medical Genetics

Fig. 1

From: A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder

Fig. 1

Irish Traveller family with PCD and laterality defects. a The family has three children with PCD and various laterality defects. Child V:3 was born prematurely and died post-delivery. DNA was available from all family members. b Transmission electron microscopy of bronchial epithelium samples from patient V:2 (1–4) and patient V:1 (5–8) showed a reduced number of dynein arms in some but not all cilia. The phenotype varied from normal ultrastructure (7) through shortened dynein arms (5, arrow) to complete absence of dynein arms. c The CCDC103 NM_001258395.1:c.461A > C was validated by Sanger sequence analysis. The inverted triangle indicates the position of the mutated A > C base on the forward strand which results in the substitution of His (H) with Pro (P) at residue 154

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BMC Medical Genetics

ISSN: 1471-2350

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