Table 2

 Summary of copy number changes, associated clinical findings, and inheritance

Patient (institution) and inheritanceArray-CGH imbalancesConfirmationClinical summaryMaximum size of imbalances
*Father deceased or unavailable.
†Parents deceased.
LUMC, Leiden University Medical Centre; MR, mental retardation; USP, University of São Paulo.
De novo
1 (LUMC)Deletion of 5 clones at 1pter-1p36.31 (GS-232-B23 to RP11-49J3)Confirmed by FISHFemale, MR, epilepsy, facial dysmorphism, shortening of metacarpals and metatarsals, hirsutism7.2 Mb
2 (LUMC)Deletion of 18 clones at 18q22.3qter (RP11-45A1 to GS-75-F20)Confirmed by FISHFemale, MR, short stature, hearing loss, congenital heart defect (total anomalous pulmonary venous return), mild facial dysmorphisms, narrow and long fingers8.3 Mb
3 (LUMC)Deletion of 12 clones at 3p24.3-p24.1 (RP11-27J5 to RP11-103N21)Confirmed by FISHFemale, mild MR, facial dysmorphism, club feet, triphalangeal thumbs, mild anaemia10.7 Mb
4 (LUMC)Deletion of 2 clones at 13q32.3 (RP11-118F16 to RP11-564N10)Confirmed by FISHMale, MR, tall stature, corpus callosum agenesis, hearing loss, facial dysmorphism3.2 Mb
5 (USP)Deletion of 7 clones at 17p11.2 (RP11-524F11 to RP11-121A13)Confirmed by FISHFemale, MR, behavioural problems including self aggression, hyperactivity, sleep disturbances, decreased pain sensitivity; midface hypoplasia, upward slanting of palpebral fissures (diagnosis: Smith-Magenis syndrome, OMIN 1822900)5.7 Mb
6 (LUMC)Duplication of a single clone at 17pter-p13.3 (GS-68-F18)Confirmed by interphase FISHFemale, mild MR, facial dysmorphism0.8 Mb
7 (LUMC)Duplication of a single clone at 6p12.3 (RP3-442L6)Confirmed by interphase FISHFemale, mild MR, hypotonia, joint hyperlaxity, facial dysmorphism, strabismus1.7 Mb
8 (LUMC)Deletion of 4 clones at 6q27qter (RP11-351J23 to GS-57-H24). Duplication of 13 clones at 20q13.31qter (RP11-46O6 to bB152O15)Confirmed by FISH [t(6,20)(q27;q13.31)mat]Male, MR, hypotonia, microcephaly, brain anomalies, mild facial dysmorphism4.7 Mb deleted 7.5 Mb duplicated
9 (LUMC)Duplication of 2 clones at 3q29-qter (GS- 196F4 and GS -56H22)Confirmed by interphase FISH; paternalFemale, moderate MR, facial dysmorphism, ataxia0.4 Mb
10 (LUMC)Partial deletion of a single clone at 15q15.3 (RP11-263I19)Confirmed by FISH; paternalFemale, mild MR, hypotonia, facial dysmorphism, cloudy cornea0.9 Mb
11 (LUMC)Deletion of a single clone at 15q13.1 (RP11-408F10)Confirmed by FISH; maternalFemale, mild MR, short stature, microcephaly, minor facial dysmorphism, premature breast development2.2 Mb
12 (USP)Deletion of a single clone at 10q21.1 (RP11-430K23)Confirmed by FISH; maternal (mother with learning difficulties and similar dysmorphisms as the patient)Male, mild MR, hyperactivity, facial dysmorphism, prominent ears, long digits, hyperextensibility of joints2.5 Mb
13 (USP)Duplication of a single clone at Xq28 (RP5-1087L19)Confirmed by MAPH; maternal; two affected first cousins born to maternal aunts; duplication also present in the investigated cousinMale, MR, hypoplasia of cerebellar vermis, Dandy-Walker anomaly, large prominent ears, high-arched palate, abdominal obesity, flat feet.1.3 Mb
14 (USP)Partial deletion of a single clone at Xp11.23 (RP1-54B20)Confirmed by FISH; maternal; similarly affected males referred in the maternal familyMale, severe MR, short stature, microcephaly, prominent ears, deep set eyes, short filtrum, early onset puberty1.8 Mb
15 (LUMC)Partial homozygous deletion of a single clone at 2p12 (RP11-89C12)Confirmed by FISH; first cousin; heterozygous father and homozygous motherFemale, MR, microcephaly, cleft palate, congenital cataract, microphthalmia; equally affected sibling carries same homozygous deletion1.0 M b
16 (LUMC)Duplication of a single clone at 8p11.1 (CTD-2115H11)Confirmed by FISH; maternalMale, mild MR, short stature, facial dysmorphism1.3 Mb
17 (LUMC)Deletion of 6 clones at 6pter-p25.2 (GS-62-L11 to RP11-15N12)Confirmed by FISH; mother not a carrier*Male, mild MR, hearing loss, iris dysplasia, eccentric pupil, hypertelorism5 Mb
18 (USP)Deletion of a single clone at 16p11.2 (RP11-74E23)Confirmed by FISH; mother not a carrier*Female, mild MR, severe speech delay, facial dysmorphism1 Mb
19 (USP)Duplication of a single clone at 22q11.21 (XX-91c)Confirmed by MAPH and array-CGH tile-path of chromosome 22; mother not a carrier*Male, mild MR, turricephaly, convergent strabismus, myopia, high and narrow palate, large upper first incisors3.9 Mb
20 (LUMC)Deletion of a single clone at 22q11.21 (XX-p273a17); duplication of a single clone at 22q11.21 (XX-91c); deletion of 5 clones at 22q12.1 (CTA-390B3 to RP11-329J17)Confirmed by MAPH and array-CGH tile path of chromosome 22†Male, mild MR, hearing loss, microcephaly, cataract, cleft palate, double set of teeth1.1 Mb deleted; 3.9 Mb duplicated; 3.9 Mb deleted