Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes

Table 1

Comparison of selected patients reported with 2q32 microdeletion syndrome.

	Rifai et al. [4]	Cocchella et al. [1]	Ferreira et al. [5] Patient 1	Mencarelli et al. [6]	Patient 2	Balasubramanian et al. [7] patient 2	Patient 3	Van Buggenhout et al. [3] Patient 3	Balasubramanian et al. [7] Patient 6	Van Buggenhout et al. [3] Patient 4
Breakpoint	176,637,788–202,728,505	181,278,257–185,623,055	178,121,127–194,943,948	Approx 180,000,000–193,000,000	183,493,891–192,126,191	190,915,507–201,302,003	191,014,657–215,693,775	Approx 193,000,000–208,000,000	195,531,681–199,625,499	Approx 196,000,000–207,000,000
Age	16 Y	25 Y	8 Y 9 M	13 Y	36 Y	5 Y	6 m	3 Y 8 M	4 Y	11 Y 11 M
Mental retardation/; developmental delay	Severe intellectual disability	Severe MR	Mild MR	Severe MR	LD	Mild-moderate MR	NS	Severe	NS	Severe
Craniofacial	Asymmetric, flat malar bones, high forehead, bitemporal constriction	Long	Large narrow forehead, midface hypoplasia	Long, high forehead	Limited jaw opening, hemifacial microsomia	High forehead	Small mouth	Asymmetry	Rectangular, prominent forehead	Small
Eyes	NS	Hypertelorism, downslanting	Dacryocystitis	Deep set	NS	Downward slanting, palpebral fissures	Bilateral cataracts, telecanthus, palpebral fissures	Dacryocystitis, coloboma	Significant for hyperopia of the right eye, esotropia of the right eye	Downward slanting palpebral fissures
Ears	NS	Retrorotated	NS	Dysmorphic right ear	NS	Mild unilateral HL	Minor external ear abnormalities, prelauricular tags	Frequent otis media	Recurring otis media	Dysplastic
Teeth	Oligodontia	NS	NS	Broad, overcrowded, abnormal	Normal	Crowded teeth	NS	Abnormal	Dental crowding	Abnormal adult teeth
Palate	Soft, bifid uvula	High	High and narrow	High	Normal	High	Cleft	High	Narrow and high arched	High
Micrognathia	NS	Yes	NS	Yes	NS	NS	Yes	NS	NS	NS
Skin/hair	Hair woolly, sparse. Skin thin almost lipoatroppic	Thick hair, normal skin	Thick and coarse skin, dry hair	Thick coarse hair, thick eyebrows	Soft and hyperextendable skin	Fine hair	NS	Thin, sparse hair	Eczema	Thin white hair
Cardiac	NS	NS	NS	NS	NS	NS	Membranous ventricular septal defect, small secundum atrial septal defect, small PDA, and severe right ventricular volume overload	Small VSD	Heart murmur	NS
Behaviour	NS	Aggressive	Aggressive and unpredictable humour, uncontrolled eating habits	Aggressive, hyperactivity, anxiety, self mutilation	OCD	None	NS	Mood change, hyperactive, autistic like behaviour	Autistic like features, hyperactivity	No behavioural problems
Speech	No active speech	No active speech	Active speech	No active speech	Normal/active speech	A few words	NS	Donald Duck speech	10-word vocabulary	Donald Duck speech

NS: not specified; VSD: ventricular septal defect; PDA: patent ductus arteriosis; LD: learning disabilities.