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- CHROMOSOME #4 -
ABNORMAL
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(4)mat | UPD(4)pat | UPD(4)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 |
| 04- W- p15.3/ 1-1 |
see McCl-04-W-p15.3/1-1 |
{17} | ||||||
| 04- W- p15.3/ 2-1 |
n.a./ prenatal |
AF | de novo | 47,+mar |
min(4)(pter→q10:) | n.a. | ultrasound abnormalities, TOP | {33} 1 case |
| 04- W- p1?5/ 1-1 |
male/ 2.5 y |
PBL | n.a. | 47,XY,+r[4]/ 46,XY[26] |
min(4)(:p1?5→q12:) | cenM; subcenM | DD, dwarphism | {0} provided by Dr. Junge, Dresden, Germany |
| 04- W- p14/ 1-1 |
see 04-U-8 | |||||||
|
***
04-W- p14/ 1-2 °°°
|
female/ prenatal |
AF; placenta | de novo | 47,XX,+mar[29]/ 46,XX[12] in placenta mar in 60% of cells |
min(4)(:p14→q11.1:) array-data: 39.8-48.9MB |
M-FISH; subcenM; aCGH; UPD-test | see below | {34} |
| Amniocentesis due to nuchal translucency 3.9mm in week 14+3 , nose bone 1.5mm in week 13; born in week 39 of pregnancy, weight 3740g. At age of 3 years 6 months the patient has no external malformations; size, weight and head circumference are all at 50th percentile. She showed psychomotor retardation, i.e. sitting with 8 months, walking with 1 year of age, delayed language development, now speaking 4-5 word sentences. | ||||||||
| 04- W- p12/ 1-1 |
see McCl-04-W-p12/1-1 |
{22} {26} case 7 |
||||||
| 04- W- p12/ 2-1 |
male/ 19m |
PBL | maternal (in mother in 67% of PBL) |
47,XY,+r[21]/ 46,XY[9] |
r(4)(::p?12→q?12::)* | cep probes, wcp 4 | see below | {31} |
| In child: at 1 y bilateral cataracts, failure to thrive, hyperactivity; In mother and child: relative microcephaly, triangular shape of face, down slanted and prominent eyes, broad tip of the nose, broad palms and soles, hyperpigmented areas of skin, wide sandal gaps. | ||||||||
| 04- W- p12/ 2-2 |
male/ 4y |
PBL | de novo | 47,XY,+mar[8]/ 46,XY[42] |
min(4)(:p12→q12:) | cenM; subcenM | see below | {0} provided by Marija Vesic, Belgrade, Serbia |
| walking at 19 months, no speech, mental retardation, sleep disturbance, self injury, macrocrania, large prominent ears, short nose, short hands and fingers | ||||||||
| 04- W- p12/ 3-1 |
n.a./ postnatal |
PBL | paternal | 47,+mar[60%]/ 46[40%] |
r(4)(::p12→q13.2::)* size in p 4.2 MB and in q 18.0MB |
subcenM with 3 BACs; aCGH | see below | {26} case 8 |
| DD; walked at 18 months of age; attention deficit hyperactivity disorder (ADHD); unilateral partial vision loss (etiology unknown); mild to moderate dysmorphic features; Tourette syndrome; Father has marker in 19 of 32 (= 60%) of peripheral lymphocytes. Father has mild intellectual disabled | ||||||||
| 04- W- p12/ 3-2 |
female/ prenatal |
AF, other tissues |
de novo | 47,XX,+mar[17]/ 46,XX[19] in other tissues diff. mosaics observed |
r(4)(::p12→q13.2::) aCGH: 46.18-67.85 MB |
SKY; aCGH | see below | {26} case 9 |
| Amniocentesis due to advanced maternal age; TOP; autopsy revealed hypertelorism, epicanthic folds, a prominent nose, a triangular face, low-set ears, clinodactyly of the fingers, and small big toes. | ||||||||
| 04- W- p11/ 1-1 |
female/ 1y |
PBL | n.a. | 47,XX,+mar[26]/ 46,XX[4] |
min(4)(:p11→q11:) | cenM,
subcenM; UPD-test |
see below | {0} provided by Dr. A. Dufke, Tübingen, Germany |
| As newborn hypotrophy; born in week 38+6, weight 2250g, length 47cm, OFC 31cm; at 13m psychomotor retardation (no sitting up) microcephaly (P3), dystrophy weight 7.35 k, length 70cm (P3), slightly dysmorphic (form of the head, large sutura metopica and ears, short neck, deep voice). | ||||||||
| 04- W- p11/ 1-2 °°°
|
male/ 3y |
PBL | n.a. | 47,XY,+mar[100%] | min(4)(:p11→q12:) array: 52.43-57.74 |
cenM,
subcenM; aCGH |
DD | {0} provided by Jason Anderson, Brisbane, Australia |
| 04- W- p11/ 2-1 °°°
|
male/ prenatal |
AF and PBL (EKF- cellbank) |
de novo | 47,XY,+mar[24]/ 46,XY[16] in PBL: 47:13 |
min(4)(:p11→q12:)[9]/ min(4)(:q12→p11: :p11→q12:)[1] |
cenM, subcenM | see below | {0} provided by Dr. C. Sarri, Athens, Greece |
| mild motor retardation compared to twin brother; no morphogenetic variants other than mild blepharophimosis inherited from mother; mild hypertonia and irritability; two central incisors in the mandible. Brain and kidney, U/S, hearing evoked potentials, and ophthalmological investigation gave normal results. | ||||||||
| 04- W- p11/ 2-2 °°°
|
female/ prenatal |
AF | n.a. | 47,XX,+mar[100%] |
mar(4)(:p11→q12:) array: 52.38-54.86 |
aCGH | TOP; Dysmorphic features: hypertelorism, long philtrum | {40} case 5 |
| 04- W- p10/ 1-1 °°°
|
male/ 27y |
PBL | de novo | 47,XY,+r[100%] | r(4)(::p10→q12::) | all centromeric probes; wcp 4 | see below | {13} case B |
| Pregnancy and birth normal; motor development delayed from birth on; in late teens diagnosed with insulin-dependent diabetes mellitus; at 27y severe mental retardation, no development of language skills; height 160cm, weight 76 cm, HC 98th percentile, central obesity with gynecomastia and kyphosis, dysmorphic face (narrow forehead, ridged occiput, downwards slanting palpebral fissures, down-turned mouth, short philtrum, narrow pinna), narrow fingers with bilateral clinodactyly of 5th finger, syndactyly of toes 2 and 3 | ||||||||
| 04- W- p10/ 1-2 °°°
|
female/ 6y |
PBL | de novo | 47,XX,+mar/ 48,XX,+mar,+mar/ 49,XX,+mar,+mar,+mar [82%]/ 46,XX[18%] |
min(4)(:p10→q13:) (sSMC is derivative of a maternal chromosome 4) |
CGH, cep 4,
centromere near probes; UPD-test |
DD, minor facial dysmorphism, postnatal overgrowth | {20; 23} |
| case
no. |
gender/ age at diagnosis |
studied material |
de
novo/ Inherited |
GTG-banding and final FISH result | test methods |
clinical
symptoms |
Reference |
| 04- W- IMB- q12/ 1-1 °°°
|
male/ 2.7y |
PBL | de novo | 46,XY,dup(4)(q12q13) | n.a. | microcephaly, mental retardation, and minor facial anomalies | {28} |
| 04- W- IMB- q12/ 2-1 °°°
|
female/ 6y |
PBL | maternal (balanced) |
46,XX,der(18)ins(18;4)(q22;q12q13) | n.a. | see below | {29} |
| At 6y short stature, microcephaly with brachycephaly, bilateral epicantal fold, microdontia, pronounced philtrum, and other minor DYS | |||||||
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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 |
| 04- CW- 1 |
male/ prenatal |
AF | de novo | 47,XY,+mar [100%] | r(4) | all available centromeric probes | Amniocentesis due to ultrasound-result: alobar holo- prosencephaly, TOP | {7} case A {11} case 1 |
| 04- CW- 2 |
female/ 4y |
PBL | de novo | 47,XX+mar[16%]/ 46,XX[84%] |
r(4) | SKY; telomeric probes | see below | {9; 10} |
| At birth length: 51cm; at 4y non-specific dysmorphic features and mild mental retardation plus no speech;; at 11y she underwent a scoliosis fusion level D5-L1 due to dextro-convex thoracal scoliosis; at age of 10 y IQ 80, later on she could follow normal school education. At 22 she was a phenotypically normal female except for macrosomia (length 183cm). | ||||||||
| 04- CW- 3 |
female/ prenatal |
AF | de novo | 47,XX+mar[100%] | r(4) | different FISH probes (D4Z1; wcp4) | Fetal pathology detected in ultrasound due to advanced maternal age; alobar holoprosencephaly confirmed after termination | {4} case 16 {5} case 1 |
| 04- CW- 4 |
female/ n.a. |
n.a. | n.a. | 47,XX,+r[30]/ 46,XX[20] |
r(4) | SKY | dysmorphic features, more prominent on the right | {6} case MP3 |
| 04- CW- 5 |
male/ 14y |
PBL | n.a. | 47,XY,+mar[100%] | min(4)(:p1?5→q11.1:) | cenM, subcenM | MR (oligophrenia), growth retardation, strabismus, upward slant to the eyes, high-arched palate, abnormal teeth positioning | {0} provided by Dr. Iourov, Moscow, Russian Federation |