Table 2.

Clinical Manifestations in Individuals with Int22h1/Int22h2-Mediated Xq28 Duplication Syndrome

ManifestationMales (n=19) 1Females (n=16)
Neurobehavioral
abnormalities 		ID or cognitive impairment16 2 (~85%)8 (50%)
Aggression & irritability6 (32%)1 (6%)
ADHD6 (32%)3 (19%)
ASD2 (11%)1 (6%)
Anxiety2 (11%)2 (13%)
Socialization deficits2 (11%)2 (13%)
Motor tics1 (5%)–
Self-mutilation1 (5%)–
Psychiatric
disorders 		Mood disorders (mainly depression or bipolar disorder)2 (11%)1 (6%)
Psychotic disorders (e.g., schizophrenia)1 (5%)–
Sleep disturbance(s) 3 (16%)2 (13%)
Recurrent
sinopulmonary
infections 		Otitis media8 (42%)–
Pneumonia4 (21%)–
Upper respiratory tract infections2 (11%)–
Atopic
conditions 		Asthma6 (32%)–
Allergic rhinitis5 (26%)–
Eczema2 (11%)–
Anthropometric
abnormalities 		Obesity5 (26%)1 (6%)
Tall stature3 (16%)–
Microcephaly1 (5%)1 (6%)
Facial
dysmorphic
(nonspecific) features 		Tall forehead11 (58%)9 (56%)
Sparse scalp hair3 (16%)3 (19%)
Sparse eyebrows3 (16%)2 (13%)
Highly rooted nasal bridge2 (11%)3 (19%)
Depressed nasal bridge2 (11%)3 (19%)
Thin vermilion of upper lip3 (16%)2 (13%)
Thick vermilion of lower lip5 (26%)7 (44%)
Large ears4 (21%)3 (19%)
Bulbous nose3 (16%)–
Long eyelashes2 (11%)2 (13%)
Limb &/or digital
abnormalities 		Clinodactyly2 (11%)1 (6%)
Preaxial polydactyly1 (5%)–

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; ID = intellectual disability

1.

Two males were diagnosed while fetuses (i.e., in utero), one of which was terminated, while the other was born with multiple malformations and subsequently lost to follow up. Therefore, several of the features listed in Table 2 for int22h1/int22h2-mediated Xq28 duplication syndrome could not be assessed in these two individuals, which warrants reader caution when assessing the "frequency" of a specific feature in affected males. It is likely that the provided percentage estimates for each feature under-predict the true prevalence of those features in affected males.

2.

Intellectual disability could not be assessed in three affected males because one of them was still an infant (age <1 year) at the time of writing this report, another was an aborted fetus, and the third was never formally evaluated for cognitive impairment because he was lost to follow up.

From: Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated

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