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- CHROMOSOME #5 -
NEOCENTRIC
In general 70% of sSMC carriers are clinically normal. The figures listed above
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(5)mat | UPD(5)pat | UPD(5)mat or pat |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding
result grade of mosaicism |
final result
of the sSMC |
test methods |
clinical
symptoms |
Reference |
| 05- N- pt15.1/ 1-1 |
male/ 22m |
PBL | de novo | 47,XY,+mar[10]/ 46,XY[18] |
inv dup(5)(pter→p15.1: :p15.1→pter) aCGH: 0-17.65 Mb |
wcp; BACs; aCGH | alternating hypo- and hyperthyroidsm treated until 9m of age; at 11m complex hyerthermal seizures andf hypotonia; at 22m dysmorhic signs noticed | {59} |
| 05- N- pt15.1/ 1-2 |
male/ 3y |
PBL | de novo | 47,XY,+mar[10]/ 46,XY[28] |
inv dup(5)(pter→p15.1: :p15.1→pter) aCGH (hg19): 0-15,009,591 |
aCGH | see below | {62} |
| Birth weight 3650g (82nd centile) length 53cm (87th centile). No congenital anomalies; as infant feeding difficulties and recurrent upper airways infections; psychomotor development delayed. Pyelectasia, foramen ovale apertum and hiatal hernia were detected at the age of 14m, in brain MRI cyst in posterior cranial fossa. At 3y 5m global developmental delay. No walking, no speech ans aggressive behavior with biting. Hypotonia (central hypotonic syndrome), hypermobility of joints and pedes planovalgi. Height 96cm (11th centile), weight 13.5kg (7th centile), head circumference 52.5cm (96th centile). Dysmorphic features with dolichocephaly, frontal bossing, low set ears, abnormality of the pinna, hypotelorism, downslanted palpebral fissures, epicanthus, depressed nasal bridge, low hanging columella, long philtrum, thin upper lip vermilion, short chin, slight midface retrusion, single transverse palmar crease on the right hand, pectus excavatum, and kyphosis. At 5y height 110[nbsp]cm, weight 15.5kg (2th centile), head circumference 54cm (95th centile). No speech and feeding and chewing difficulties persisted, but able to walk independently. Symptoms of an autism spectrum disorder. In addition, a small umbilical hernia was present. Midface retrusion and short chin observed previously were not present, but the forehead was even more prominent. | ||||||||
| 05- N- pt14/ 1-1 |
female/ 1w |
AF/ PBL |
de novo | 47,XX,+mar[19] | inv dup(5)(pter→p14: :p14→pter) (sSMC derived from a paternal chromosome 5) |
midi; all human centromere probe; telomere probe, cep 1/5/19; UPD-test |
see below | {7; 10; 11; 21} |
| Amniocentesis due to severe microretrognatia in ultrasound; delivery was induced in week 37 due to cessation of intrauterine growth; weight <3rd centile, length and HC 3rd centile; APGAR 1/6/7; microretrognatia, cleft hard and soft palate; muscular hypotonia; at 4.5m length, weight and OFC <3rd centile; severely dystrophic, delayed psychomotor development; microcephaly, prominent forehead, telecanthus, upward slanting palpebral fissures, short nose with depressed nasal bridge, prominent philtrum, large and thin ears, thorax asymmetry, left convex scoliosis of thoracic spine, atrial septal defect, epilepsy | ||||||||
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| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding
result grade of mosaicism |
final
result of the sSMC |
test methods |
clinical
symptoms |
Reference |
| 05- N- p or q/ 1-1 |
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| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding and final FISH result | test methods |
clinical
symptoms |
Reference |
| 05- N- IMB- p1?/ 1-1 to 11-1 |
8 partial trisomy 5p cases summarized in {23}, 11 in {30} | {23, 30} | |||||
| 05- N- IMB- p14/ 2-1 |
46,XX,trp(5)(pter→p14::p14→p15.33::p15.33→qter) | {24} | |||||
| 05- N- IMB- q35.1/ 1-1 |
46,XX,inv dup(5)(q35.1qter) | {28} | |||||
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