19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype

Abstract

We report a patient who was followed for a long time under an ectrodactyly ectodermal dysplasia-clefting (EEC) syndrome and was subsequently diagnosed with a 19q13.11 microdeletion. After a review of the related literature, we suggest testing patients with EEC for 19q13.11 microdeletion and include WTIP and UBA2 to a minimal overlapping region.

Keywords: chromosome 19q13.11 deletion syndrome; developmental disabilities; ectodermal dysplasia; intellectual disability.

Figure 1

(A1) Patient at one day after birth, showing cutis aplasia in midline scalp before surgical correction; (A2) Cutis in midline scalp at one year and 20 days‐old after the correction of the cutis aplasia; (B1) Patient at one year and 20 days‐old, note high forehead, micrognathia, low set, and poorly folded ears; (C(a)) Note ectrodactyly on the hands; (C(b)) Ectrodactyly on the feet; (D(a)) Radiograph of right hand shows a typical cleft hand deformity with absence of the central rays (the third and fourth rays); radiograph of left hand shows a complete simple syndactyly of third and fourth rays. (D(b)) Radiograph of right foot shows a typical cleft feet deformity with complete absence of second ray, third metacarpal was present but phalanges of middle finger were absent; complete simple syndactyly of 4th and 5th rays, and lateral deviation of the hallux. Radiograph of left foot shows a partial simple syndactyly from second to fifth toes

Figure 2

Array CGH profile of chromosome 19 showing deletion at 19q13.11: (A) Copy Number State segment (red box), (B) weighted log2 ratio, (C) copy number state, (D) allele peaks

Figure 3

Schematic representation of the 19q13 deletion region, according to genome assembly hg19 (GRCh37). 1‐ Kulhayra et al (1998), 2‐ Malan et al (2009) (patient 1), 3‐ Malan et al (2009) (patient 2), 4‐ Malan et al (2009) (patient 3), 5‐ Schuurs‐Hoeijnakers et al (2009), 6‐ Gana et al (2012) (patient 1), 7‐ Gana et al (2012) (patient 2), 8‐ Forzano et al (2012), 9‐ Chowdhurry et al (2013) (patient 1), 10‐ Chowdhurry et al (2013) (patient 2), 11‐ Venegas‐Veja et al (2014), 12‐ Melo et al (2015), 13 and 14‐ Urquhart et al (2015), 15‐present patient. Pink line: female; blue line: male; dark blue: propositus. MOR, minimal overlapping region