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Table 1 Clinical and cytogenetic characteristics of patients
| Patient | Initial karyotype | Sex | Age at last evaluation | ASD | Cognitive level | Language | Birth and early development | Body measures | Dysmorphic features | Other | Brain MRI |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1a | 46,XY,der(4)t(4;acro p)(p16.3;acro p)dn | M | 4 y | Autism (DISCO) | VIQ 67, PIQ 78, FSIQ 69 (WPPSI-R, 34 mo) | Functional language | Born at 42 wk, W +4.3 SD (gestational diabetes), neonatal hypoglycemia. Normal motor milestones | 4 y: W and H +2-3 SD | No dysmorphic features, mild strabismus | Inguinal hernia | Not done |
| 2a | 46,XY,t(5;18)(q12;p11.2)dn | M | 5 y | Autism (ADI-R) | DQ 52 (PEP-R, 40 mo) | 1st words 36 mo, no sentences | Born at 38 wk, W –0.6 SD, H –1 SD, OFC mean. Walked at 17 mo | 5 y: W –1 SD, H +1 SD, OFC –0.4 SD | No dysmorphic features, slender habitus, long fingers and toes, numerous secondary palmar creases | Frequent otitis, eczema | Small bilateral insular hypersignal suggesting myelinization delay (at 4 y) |
| 3b | 46,XY,inv(11)(p14q23.2)dn | M | 4 y | Autism (ADI-R, ADOS) | DQ 13 mo (Brunet Lezine-R, 4 y) | Non-verbal | Intrauterine growth retardation, born at 37 wk, W –3.5 SD, H –3.5 SD, OFC –2.5 SD. Delayed motor development, unable to walk at 4 y | 42 mo: W, H and OFC –3 SD | Mild dysmorphic features, high forehead, horizontal eyebrows, upslanting palpebral fissures, bulbous nose, smooth philtrum, thin upper lip, posteriorly rotated ears, single palmar crease, bilateral clinodactyly 5th finger | Aggressiveness, anxiety, stereotypies, head banging, bilateral cryptorchidism, axial hypotonia, hyperlaxity | Supratentorial ventricular enlargement, increased subarachnoid spaces (at 18 mo) |
| 4a | 46,XY,inv(2)(q14.2q37.3)mat (reported previously [15]) | M | 14 y | Autism (ADI-R) | VIQ 46, PIQ 50, FSIQ 46 (WISC-III, 14 y) | 1st words 30 mo, 1st sentences 60 mo | Born at 39 wk, W mean, H –0.5 SD, OFC –1.1 SD. Sat at 9 mo, walked at 14 mo | 12 y: W +0.5 SD, H –0.5 SD, OFC mean | Mild dysmorphic features, frontal bossing, flattened nasal bridge, deep-set eyes, downslanting palpebral fissures, thin upper lip | Hyperactivity, head banging, anxiety, asthma, insulin-dependent diabetes, growth hormone deficit | Normal (at 3 y) |
| 5a | 46,XX,inv(2)(p12q14.1)dn (benign cytogenetic variant) | F | 13 y | Autism (ADI-R) | DQ 30 (PEP-R, 6 y) | Non-verbal | Born at 39 wk, W +0.5 SD, H mean, OFC +1.9 SD. Sat at normal age, walked at 22 mo | 13 y: W +3.5 SD, H +2 SD, macrocephaly (+4.2 SD) | Mild dysmorphic features, narrow palpebral fissures, short philtrum, large hands and feet, one café-au-lait spot | Stereotypies, self-injurious behavior, sleep disturbance, one episode of febrile seizure at 31 mo, normal EEG | Chiari type I malformation, mild white matter hyperintensities (at 9 y) |
| 6a | 46,XX,inv(9)(p11q13)dn (benign cytogenetic variant) | F | 7 y | Autism (ADI-R) | Intellectual disability | Isolated words | Born at term, W +0.5 SD, H +0.9 SD. Walked at 12 mo | 7 y 2 mo: W +3.8 SD, H +4.1 SD, OFC +1.7 SD | No dysmorphic features | Precocious puberty at 7 y, bone age 8 y, normal hormone levels, pulmonar stenosis, moderate systolic murmur | Normal (at 7 y) |
| 7a | 46,XY,inv(5)(q13q34)dn | M | 18 y | Autism (ADI-R) | VIQ 93, PIQ 80, FSIQ 86 (WISC-III, 18 y) | No delay, functional language | Born at 40 wk, mean W, H and OFC. Sat at 9 mo, walked at 20 mo | 18 y: W –1.4 SD, H mean, OFC +1.6 SD | No dysmorphic features, mild clubbing | Refraction error | Myelinization delay (at 18 y) |
| 8b | 46,XY,t(9;19)(p12;q13.4)dn | M | 7 y | Autism (ADI-R, ADOS) | VIQ 83, PIQ 80, FSIQ 79 (WPPSI, 5 y 5 mo) | 1st words 24 mo, 1st sentences 36 mo, functional language | Born at term, W +1 SD, OFC +0.3 SD. Sat at 7 mo, walked at 11 mo | NA | No dysmorphic features | ADHD | Normal |
| 9b | 46,XX,t(X;5)(p11.2;q35.2)dn (reported previously [59]) | F | 8 y | ASDc | PIQ 58 (WISC-R at 8 y) | Non-verbal, uses sign language | Born at term, W +1 SD. Sat at 9 mo, walked at 21 mo | 4 y: W and H mean, OFC +1 SD | Mild dysmorphic features, prominent forehead, saddle nose, midface hypoplasia, high arched palate, generalized alopecia with scattered thin hair, umbilical hernia, pectus excavatum | Hypomelanosis of Ito, pigmented lesions on the legs, achromic lesion on the back, hypotonia, hyperlaxity, flat feet, hypermetropia, febrile seizures, absence seizures, abnormal EEG. Skewed X inactivation of the normal chromosome (92%) | Normal (at 6 y) |
| 10a | 46,XY,t(20;21)(q11.2;q21)dn | M | 12 y | Autism (ADI-R) | DQ 20 (PEP-R, 12 y) | Non-verbal | Born at 41 wk, W –1.7 SD, H –0.5 SD, OFC –1.1 SD. Sat at 9 mo, walked at 18 mo | 12 y: W –1.8 SD, H mean, microcephaly (–3.6 SD) | Dysmorphic features, low forehead, thick eyebrows, long nose, short philtrum, right single transverse palmar crease | Strabismus, epilepsy (onset at 9 mo) | Not done |
| 11a | 46,XY,t(9;16)(q3.2;p1.2)mat | M | 18 y | Autism (ADI-R) | VIQ 46, PIQ 46, FSIQ 40 (WISC-III, 14 y) | Language delay, 1st phrases 5 y, functional language | Born at term, W +1.3 SD, H +1 SD, OFC +2.1 SD. Sat at 8 mo, walked at 14 mo | 18 y: W +3 SD, H mean, OFC +2.3 SD | No dysmorphic features, short neck, brachymetatarsia of 4th and 5th rays | Hyperactivity in childhood, strabismus, hypermetropia | Not done |
| 12a | 46,XY,t(3;8)(q13.2;p23)mat | M | 5 y | Autism (DSM-IV, CARS) | VIQ 79, PIQ 74, FSIQ 77 (Stanford-Binet IV, 3 y 9 mo) | 1st words 26 mo, 1st sentences 36 mo, few sentences at 5 y, dysarthric speech | Normal pregnancy, delivery and early development; walked at 13 mo | 4 y: W, H and OFC within normal limits | No dysmorphic facial features, long ring finger, brachymesophalangia V, sandal gap | Severe ADHD, pica, self-injurious behavior, partial complex epilepsy (onset at 4 y, currently seizure free on medication), chronic ear infections, chronic diarrhea, food allergies | Not done |
| 13b | 46,XY,t(2;20)(q13;q13.33)mat | M | 22 y | ASDc | Intellectual disability | Language delay, uses only a few words, answers with signs | Born at term, W –0.8 SD, H –1 SD, OFC –1.1 SD. Sat at 11 mo, walked at 2 y | 22 y: W +1.4 SD, H mean, OFC –1 SD | No dysmorphic facial features, bilateral clinodactyly 5th finger, several café au lait spots | Hyperactivity, aggressiveness, inappropriate laughter, hand stereotypies, unilateral strabismus, seizures at 7 mo, no recurrence after stopping treatment | Normal (at 1 y) |
| 14a | 46,XX,inv(5)(p13.3q13.3)pat (benign cytogenetic variant) | F | 8 y | Autism (ADI-R) | DQ 55 (PEP-R, 5 y) | 1st words 18 mo, 1st sentences before 3 y; echolalic language | Dizygotic twin pregnancy, born at 27 wk, W 880 g. Walked at 18 mo | 8 y: W mean, H and OFC +1 SD | No dysmorphic features, long face, flat feet, tuberous angioma scar on scapula | Insensitivity to pain | Non specific white matter hypersignal (at 5 y) |
| 15a | 46,X,inv(Y)(p11q11)pat (benign cytogenetic variant) | M | 14 y | Autism (ADI-R) | DQ 15 (PEP-R, 14 y) | Non-verbal | Born at 38 wk, W –2.1 SD, H –1.5 SD, OFC –2 SD. Sat at 9 mo, walked at 13 mo | 14 y: W +2 SD, H +1 SD, OFC mean | Synophris, abnormal dental implantation (delayed tooth loss) | Normal (at 14 y) | |
| 16b | 46,XY,t(2;13)(p23;q14)pat | M | 7 y | Autism (ADI-R, ADOS) | PIQ <1st %ile (Raven, 7 y 5 mo) | 1st words 36 mo, 1st sentences 48 mo, functional language | Born at term, W –1.2 SD, H +0.5 SD, OFC +0.7 SD. Sat at 20 mo, walked at 36 mo | NA | No dysmorphic features | ADHD | Normal |
| 17a | 46,XY,t(4;9)(p13;p23) (not maternal, father not tested) | M | 30 y | Autism (ADI-R, ADOS) | DQ <20 (PEP-R, 16 y) | Non-verbal | Born at term, W +0.7 SD, H +1 SD. Feeding difficulties, hypotonia, growth delay (–3 SD). Walked at 4 y | 30 y: W –1 SD, H +1.1 SD, OFC –0.5 SD | No dysmorphic features except for enophtalmia, low-set eyebrows, large ears, narrow hands | Hyperactivity, severe sleep disturbance, insensitivity to pain, gastric and esophageal ulcers, abnormal EEG at 1 y (temporal lobe focus), no epilepsy | Not done (encephalography at 6 mo: global ventricular dilatation) |
| 18b | 46,XY,t(2;13)(q22;q31) (not maternal, father not tested) | M | 4 y | Autism (ADI-R, ADOS) | IQ <1st %ile (Raven, 4 y 8 mo) | Non-verbal | Born post-term at 47 wk, W –0.8 SD, H –0.8 SD, OFC –0.6 SD. Sat at 20 mo, walked at 36 mo | 4 y: W and H –0.5 SD, OFC –2 SD | No dysmorphic features, brachyplagiocephaly | ADHD, aggressiveness, anxiety | Normal |
