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Fig. 1 | Molecular Cytogenetics

Fig. 1

From: Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

Fig. 1

Facial phenotypes and nail abnormalities of patients with 9q33.3-q34.1 deletion. Facial phenotypes of patients 1–5 (a, b and d-l) and nail abnormalities of patient 1 (c). Patient 1 at the age of 11 months (a) and 35 months (b). Note round face, telecanthus, upslanting palpebral fissures, epicanthic folds, short nose, thin upper lip, low-set ears, tapering fingers, and ridged nail of the thumb (c). Patient 2 at the age of 5 years (d), and 6 years (e, f). Note prominent forehead, arched eyebrows, slightly upslanting palpebral fissures, and thin upper lip. Patient 3 at the age of 4 years (l). Note high frontal hairline, a short nose with anteverted nares and a dimpled chin. Patient 4 at the age of 5 months (g), 3 years (h), and 5 years (i). Note high frontal hairline, telecanthus, upslanting palpebral fissures, arched eyebrows, and thin upper lip. Patient 5 at the age of 11 years (j, k). Note round face, thin upper lip, and prominent lower lip

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Molecular Cytogenetics

ISSN: 1755-8166