Table 1.

Phenotypic characteristics of 7q11.23 duplication, showing common feature of expressive-language and speech delay

Duplication	Language	IQ	Other	Ref.
Supernumerary ring 7a
Mother	Poor articulationb	Low performancec	Mosaicism; facial dysmorphism	86
Daughter	Severe speech and language delay	Performance 73 Verbal 57	Mosaicism; facial dysmorphism
Son	Severe speech and language delay	Mild DD	Mosaicism; facial dysmorphism
Supernumerary ring 7a	Severe speech and expressive-language delay	69	Nonmosaicism; abnormalities of teeth, genitals and limbs	87
Supernumerary ring 7a	Expressive-language delayd	NA	Mosaicism; moderate hearing impairment; facial dysmorphism	88
Supernumerary ring 7a	Speech and expressive-language delay	80	Mosaicism; ADHD; facial dysmorphism	88
Supernumerary ring 7a	Severe speech and expressive-language delay	Average nonverbal IQe	Mosaicism	89
Supernumerary ring 7a	Speech delayf	DD	Mosaicism; CHD; facial dysmorphism; long digits	90
Supernumerary ring 7	Severe language delayd	NA	Mosaicism; 47,XXY	91
>10 Mb duplication
Sibling 1	Significant language delayd	NA	Mosaicism; facial dysmorphism	91
Sibling 2	Significant language delayd	NA	Mosaicism; facial dysmorphism
>1.5 Mb duplication	Speech dyspraxiaf	NA	Craniofacial anomalies	72
1.5 Mb duplication	Severe speech and expressive-language delay	Mild DD	Facial dysmorphism; ADHD	4
1.5 Mb duplication	Severe speech delayb	Severe LD	Facial dysmorphism	95
1.5 Mb duplication	Moderate language delayd	NA		94
1.5 Mb duplication	Severe speech and language delay	53	Cortical dysplasia of temporal lobe; facial dysmorphism	96
1.5 Mb duplication	Speech delayb	NA		92
1.5 Mb duplication	Severe speech delayb	NA	Aicardi syndrome (X-linked); schizencephaly; polymicrogyria	93
1.5 Mb duplication	Prominent language delayd	NA		91
1.5 Mb duplication	Prominent language delayd	NA		91
1.5 Mb duplication	Severe speech and language delay	Severe mental retardation	Autistism spectrum disorder; mild facial dysmorphism; ADHD; hyperphagia; paroxysmic episodes	97

^aAll cases of supernumerary ring chromosome 7 reported in this table have confirmed duplication of the WBS region.

^bNo information on language ability reported.

^cBased on observation rather than formal assessment. No verbal or overall IQ reported.

^dNo information reported re speech acquisition.

^eNo verbal or overall IQ reported.

^fToo young to evaluate for language delay.

Abbreviations: ADHD, attention-deficit hyperactivity disorder; CHD, congenital heart disease; DD, developmental delay; LD, learning disability; NA, not available.