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1a
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46,XY,der(4)t(4;acro p)(p16.3;acro p)dn
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M
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4 y
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Autism (DISCO)
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VIQ 67, PIQ 78, FSIQ 69 (WPPSI-R, 34 mo)
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Functional language
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Born at 42 wk, W +4.3 SD (gestational diabetes), neonatal hypoglycemia. Normal motor milestones
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4 y: W and H +2-3 SD
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No dysmorphic features, mild strabismus
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Inguinal hernia
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Not done
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2a
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46,XY,t(5;18)(q12;p11.2)dn
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M
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5 y
|
Autism (ADI-R)
|
DQ 52 (PEP-R, 40 mo)
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1st words 36 mo, no sentences
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Born at 38 wk, W –0.6 SD, H –1 SD, OFC mean. Walked at 17 mo
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5 y: W –1 SD, H +1 SD, OFC –0.4 SD
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No dysmorphic features, slender habitus, long fingers and toes, numerous secondary palmar creases
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Frequent otitis, eczema
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Small bilateral insular hypersignal suggesting myelinization delay (at 4 y)
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3b
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46,XY,inv(11)(p14q23.2)dn
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M
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4 y
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Autism (ADI-R, ADOS)
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DQ 13 mo (Brunet Lezine-R, 4 y)
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Non-verbal
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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
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42 mo: W, H and OFC –3 SD
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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
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Aggressiveness, anxiety, stereotypies, head banging, bilateral cryptorchidism, axial hypotonia, hyperlaxity
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Supratentorial ventricular enlargement, increased subarachnoid spaces (at 18 mo)
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4a
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46,XY,inv(2)(q14.2q37.3)mat (reported previously [15])
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M
|
14 y
|
Autism (ADI-R)
|
VIQ 46, PIQ 50, FSIQ 46 (WISC-III, 14 y)
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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
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12 y: W +0.5 SD, H –0.5 SD, OFC mean
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Mild dysmorphic features, frontal bossing, flattened nasal bridge, deep-set eyes, downslanting palpebral fissures, thin upper lip
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Hyperactivity, head banging, anxiety, asthma, insulin-dependent diabetes, growth hormone deficit
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Normal (at 3 y)
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|
5a
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46,XX,inv(2)(p12q14.1)dn (benign cytogenetic variant)
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F
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13 y
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Autism (ADI-R)
|
DQ 30 (PEP-R, 6 y)
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Non-verbal
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Born at 39 wk, W +0.5 SD, H mean, OFC +1.9 SD. Sat at normal age, walked at 22 mo
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13 y: W +3.5 SD, H +2 SD, macrocephaly (+4.2 SD)
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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
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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
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7 y 2 mo: W +3.8 SD, H +4.1 SD, OFC +1.7 SD
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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)
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No delay, functional language
|
Born at 40 wk, mean W, H and OFC. Sat at 9 mo, walked at 20 mo
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18 y: W –1.4 SD, H mean, OFC +1.6 SD
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No dysmorphic features, mild clubbing
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Refraction error
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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
|
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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)
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Non-verbal, uses sign language
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Born at term, W +1 SD. Sat at 9 mo, walked at 21 mo
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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
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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)
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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
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12 y: W –1.8 SD, H mean, microcephaly (–3.6 SD)
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Dysmorphic features, low forehead, thick eyebrows, long nose, short philtrum, right single transverse palmar crease
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Strabismus, epilepsy (onset at 9 mo)
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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
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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
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Normal pregnancy, delivery and early development; walked at 13 mo
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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
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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
|
