ChromosOmics - Database

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                                                  -  CHROMOSOME #12 -                                                 
NEOCENTRIC

Cases with neocentromeres (N)


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
12-
N-
mar/
1
 		n.a/
n.a. 		PBL? de novo 47,+mar[?] mar(12) SKY see below {16} case 5
global DD, coarse facies, plus other dysmorphic features as seen on PKS; bifrontal sparseness of hair, abnormal placed prominent ears, mild hypertelorism, upslanting palpebral fissures, epicanthic folds, flattened nasal bridge, long philtrum, high arched palate
12-
N-
pt13.33/
1-1
female/
~4y 		PBL de novo 47,XX,+mar[70%]/
46,XX[30%] 		der(12)(:p13.33→p13.31:
:p13.31→p13.33:) 		aCGH
cenM 		see below {278}
skin showed linear, patchy or vortex-like pigmentary disturbances only partially arranged along atypical lines of Blaschko without any apparent midline separation
12-
N-
pt13.31/
1-1 		n.a./
prenatal
AF 		n.a. 47,XY,+mar[100%]
 		ATYPICAL ACENTRIC PKS MARKER
inv dup(12)(pter→p13.31: :p13.31→pter)*
seq[hg19] 12p13.33p13.31
(160000_9420000)x4*
acc to GTG-banding must be an inv dup
data of paper overall 'unclear'
 		aCGH TOP {340} case 14
12-
N-
pt13/
1-1
female/
3y 		PBL de novo 47,XX,+mar[100%] ATYPICAL ACENTRIC PKS MARKER
inv dup(12)(pter→p13::p13→pter) 		midi, M-FISH; cenM-FISH; aCGH see below {119; 123; 146} {181} case 3
Pregnancy and term delivery were normal. Birth weight 3.850 g (90th centile), length 53 cm (90th centile), head circumference 34 cm. No perinatal problems were noted; referred to a children’s hospital because of psychomotor developmental retardation; began sitting with assistance at 8 m and walking at 1 y 9 m; motor activity decreased; she presented with mental and speech delay; at 2 y 2 m weight 16.2 kg (97th centile), length 89 cm (75th centile), OFC 47.5 cm (10th - 25th centile); there was paratrophia (unusual for the age fat accumulation on buttocks and hips) and muscular hypotonia. Craniofacial dysmorphism included hypotrichosis (sparse scalp hair), a high forehead with high frontal hairline, mildly dysmorphic longish ears with hypoplastic antihelices and lobes, a round face, flat supraorbital regions, mild hypertelorism (3.2 cm), horizontal position of eye axes, flaring of lateral part of eyebrows, long straight eyelashes, a large nose with bulbous tip, full lips, short upper lip with short frenulum, high-arched palate, unusual configuration of both eyeteeth; broad neck, chest deformation (marked prominent of parasternal regions) and pilonidal dimple. Hands and feet were large with mild swelling of the dorsa as well as flat arches of the feet. At the age of 10 years: weight 46.5 kg ([gt]97th centile), length 158 cm ([gt]97th centile), OFC 52 cm (50th centile), profound mental delay, lack speech and self-help skills, behavioral abnormalities (irritability, aggressiveness) and abnormal gait, still muscular hypotonia and an unusually slow hair growth with sparsity of scalp hair bitemporal. At 12 10/12 y normal pubertal development with regular menarche, chronic rhinitis and caries. Hematological studies revealed a persistent leucopenia (first appeared at the age of 11.5 y).
12-
N-
pt12.3/
1-1
female/
1y 		skin
fibroblasts 		de novo 47,XX,+mar[13]/
46,XX[13] 		ATYPICAL ACENTRIC PKS MARKER
inv dup(12)(pter→p12.3: :p12.3→pter) 		MCB see below {3; 107; 118; 146}
third child of healthy non-consanguineous parents, uneventful pregnancy, delivery spontaneous at term (birth weight 3.300g (50th centile), length 49cm (25th centile), head circumference (OFC) 33cm (10th centile), APGAR scores 10/10/10). At age of 1 month : apparent dysmorphic signs, heart murmur, hypotonia. Weight, length and OFC between the 3rd and 7th centile. Anomalies: bitemporal sparsity of hair, narrow prominent forehead, small ears, ptosis, hypertelorism, broad flat nasal bridge, small nose, long philtrum, thin upper lip, drooping lower lip and high arched palate. She had broad hands with terminal hypoplasia of fingers., apparently narrow pulmonary artery, slight supraventricular stenosis; small posterior-apical situated atrial septal defect. Diagnosis of PKS (Fig. 1). Seizures have been present since the age of 3 years.
12-
N-
pt12.3/
1-2 		male/
prenatal
AF 		n.a. 47,XY,+mar[16]/
46,XY[18] 		ATYPICAL ACENTRIC PKS MARKER
inv dup(12)(pter→p12.3: :p12.3→pter) 		FISH, MLPA sonographic abnormalities; left hydroureter, left hydronefrosis {196} case 6
12-
N-
pt11.22/
1-1
male/
1y 		PBL/ skin
fibroblasts/ buccal mucosa
de novo 		in blood: 46,XY
 in fibro: 47,XY,+mar[18]/
46,XY[32] 		ATYPICAL ACENTRIC PKS MARKER
inv dup(12)(pter→p11.22: :p11.22→pter)
buccal mucosa nuclei:
sSMC in 53% 		HR-CGH, BACs see below {141}
Normal pregnancy and delivery; birth weight 4940 g (>97th centile), length 53 cm (90th centile), OFC 'normal'. At 6m[nbsp] psychomotor delay. At 2.5 y weight 13 kg (50th centile), length 87 cm (50th centile), head circumference 46cm (<3rd centile). Dysmorphic features incl. patchy front temporal alopecia, hypertelorism, long philtrum, low set posteriorly rotated ears, anteverted nostrils, epicanthal folds, bilateral simian crease, hypo pigmented skin whorls on trunk and limbs. Plus horizontal nystagmus, bilateral sensorineurak hearing loss, generalized muscular hypotonia, severe psychomotor retardation, speech absent. PKS like.
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Cases with neocentromeres (N) - TUMOR


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
12-
N-
p or q/
1-1 		-
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N-Cases with similar imbalances NOT caused by sSMC (N-IMB):

case no.
 		gender/
age at diagnosis
studied
material
 		de novo/
inherited
 		GTG-banding and final FISH result test
methods
 		clinical symptoms
 		Reference
12-
N-
IMB-
pter/
1-1 to
?-1 		cases reviewed in with (partial) trisomy of 12pter in {147-148} {158}
see also {182} 		{147-148}
{149} 1 case {158}
{170}
12-
N-
IMB-
qter/
1-1 to
?-1 		see {183} {183}
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