Patient 1 | Patient 2 | |
---|---|---|
Cytogenetic aberration | 46,XY.ish der(14)t(14;19)(p11.2;p13.2)de novo; partial trisomy of the telomeric part of the short arm of chromosome 19, which is translocated to the short arm of chromosome 14 | 46,XY.ish der(16)t(16;19)(p13.3;p13.3) balanced translocation; array-CGH: microduplication 19p, microdeletion 16p |
Chromosomal break points (min-max) | (arr(hg19) 19p13.3p13.2(90 897–7 300 043)×3) | (arr(hg19)16p13.3(106 271–1 024 153×1), 19p13.3(327 273–6 887 622×3) |
Size (max) | 7.2 Mb (19p) | 6.56 Mb (19p) and 0.92 Mb (16p) |
Gestational age (week+day); APGAR | 32+2; IUGR, caesarean section, anhydramnion; 8/9/9; RDS | 31+1; IUGR, caesarean section; 7/8/9; wet lung; |
Birth weight (g; percentile) | 990; <3% | 660; <3 |
Birth length (cm; percentile) | 34 ; <3% | 34; <3 |
Birth head circumference (cm; percentile) | 26,5:<3% | 23,5; <3 |
Current age and growth status; body weight/length/head circumference | Current age: 7 8/12 years 19 kg; <3%/110 cm; <3%/n.d. | 24 months; 7,77 kg; <<3%/75 cm; <3%/42 cm; <<<3% |
Head and neck face, ears, eyes, nose, mouth | Microcephalus, flat nasal bridge, telecanthus, low set ears, and long philtrum, strabismus convergens alternans | Microcephalus, flat nasal bridge, telecanthus, short upslanting palpebral fissures, long eyelashes, strabismus, hypermetropia, long philtrum, narrow/thin lips, micrognathia and pharyngeal instability; strabismus, hypermetropia |
Cardiovascular | Unremarkable | Persisting ductus arteriosus of borderline haemodynamic relevance |
Abdomen | Bilateral incarcerated inguinal hernia | Bilateral inguinal hernia |
Genitourinary | Perineal hypospadia (grade IV) Snodgras surgery (at 5 years of age); penoscrotal fistula (urethral stent at 6 years) | Glandular hypospadia (grade I), hydrocele vaginalis testis; maldescensus testis; horseshoe kidney |
Skeletal | Severe osteopenia (z-score: −4.6 [0,26/cm3]), developmental dysplasia of the hip IV A Pemberton's acetabuloplasty | Camptodactylia of both toes II, IV and V with overlapping of the right IVth toe |
Skin, nails hair | Unremarkable | Sparse hair (borderline normal at 24 months), clubbed nails and skin |
Neurological | Profound motor and mental retardation, brainstem evoked response audiometry (BERA): sensorineural hearing loss, habitual primarily generalised seizures (EEG-verified epilepsy, pathology III°) cranial MRI: hypoplastic inferior vermis and a slightly extended temporal lobe, otherwise normal. | Profound motor and mental retardation; mild muscular hypotonia; automated auditory brainstem response (AABR-ALGO): normal. Two short generalised seizures in the context of suspected meningitis, EEG basal activity inadequate, otherwise normal, no focal activity; cranial MRI: multiple diffuse hyperintense white matter lesions, pronounced atrophy, hydrocephalus e vacuo, normal corpus callosum, microcystic lesion in basal ganglia; otherwise normal. |
IUGR, intrauterine growth retardation; arr cgh, array comparative genome hybridization; RDS, respiratory distress syndrome.