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
|
17-
W-
p13.3/
1-1 |
see
17-Uc-1 |
17-
W-
p13.3/
2-1 |
female/
20m |
PBL |
de novo |
47,XX,+min(17)
(pter→q11:)[60%]
/ 46,XX[40%] |
n.a. |
n.a. |
see below |
{17} |
pregnancy
and birth uneventful; At 20m psychomotor
retardation; frontal bossing; antimongoloid
slant of eyes, small nose with wide nasal
bridge, hypertelorism, narrow palpebral
fissures, low-set ears, mild clinodactyly of
right 5th digit; hypotonia |
17-
W-
p13.3/
3-1 |
n.a./
prenatal |
fetus |
n.a. |
47,XX,+mar[100%] |
dic(17)(pter→q11.1:
:q11.1→pter) |
aCGH |
early
abortion |
{68} |
17-
W-
p12/
1-1
°°°
|
female/
2y |
PBL |
de novo |
47,XX,+mar[70%]/
46,XX[30%]
at age of
2y - at age of 8.5y mar present in only 50% |
min(17)(:p12→q11.1:)* |
CGH;
wcp17; D17Z1; Smith-Magenis- probe in 17p12 |
see below |
{4} |
pregnancy
and delivery normal, antipodes anus in
newborn period, suffered from severe
constipation till age of 18 months;
hypotonia and psychomotor delay from age of
9 months on; at age of 8.5y 125cm tall,
27.4kg and OFC of 52cm; squared face,
somewhat bitemporal diameter with
dolichocephaly shape of the skull, mildly
down slating palpebral fissures, high arched
palate; mild to moderately mental retarded. |
17-
W-
p12/
1-2
°°°
|
male/
2.5y |
PBL |
de novo |
47,XY,+mar[51]/
46,XY[9] |
min(17)(:p12→q11.1:) |
locus-specific
FISH-probes as specified in {12} plus micro
satellite markers; UPD-test |
see below |
{12; 14} |
Born in
gestational week 41 by caesarean section;
weight: 3350g, APGAR 3/6/8; developmental
delay; significant feeding difficulties,
oval face, large nose, prominent ears;
moderate hypotonia |
17-
W-
p12/
2-1
°°°
|
female/
2y |
PBL |
de novo |
47,XX,+r[6]/
46,XX[39] |
r(17)(::p12→q11::) |
different
FISH-probes:
cep; wcp, SMS-probe in 17p11.2; MDS-probe in
17p13.3 |
see below |
{34} case 17 |
Uneventful
pregnancy; born at term by Caesarian
section; Birth weight 3.6 kg. During
neonatal period feeding difficulties and
bilateral dislocation of the hips was noted.
Concern first arose because of mild delay in
acquisition of verbal skills at around 2y.
At 3y limited vocabulary of 20-30 words;
motor and skills also showed mild delay;
head circumference and length fell on the
2nd and 50th centile, respectively.; bad
folded helices, deep-set eyes, thin upper
lip, ful1 lower lip, macroglossia
macrostomia, maxillary hypoplasia, bilateral
single transverse palmar creases,
discrepancy in hand size, long narrow feet,
generalized joint laxity, scoliosis
abnormality. |
17-
W-
p12/
2-2
°°°
|
n.a./
prenatal |
PBL |
de novo |
47,+mar[60%]/
46[40%] |
r(17)(::p12→q11::)* |
n.a.;
subcenM 3 BACs |
Clubbed feet
on ultrasound; increased risk for Down
syndrome on serum screen. No follow-up data
available |
{9} |
17-
W-
p12/
3-1 |
-
|
-
|
-
|
-
|
-
|
-
|
-
|
-
|
17-
W-
p12/
3-2
°°°
|
female/
prenatal |
AF and PBL |
de novo |
47,XX,
+mar[27-41%]/
46,XX[73-59%] |
r(17)(::p12→q11::)* |
CGH; all
cep, M-FISH - LSI SMS (latter not on mar) |
postnatal
DD, speech delay, left Totrocolis, left 3rd
digit laxity, poor eye contact |
{47} case 4 |
17-
W-
p12/
3-3 |
male/
prenatal |
CH |
de novo |
47,XY,+r[75%]/
46,XY[25%] |
r(17)(::p12→q12::)
array: 11.18-30.66 MB |
different
FISH probes: cep17; wcp 17; aCGH |
normal at
birth; slightly retarded at age of 2y |
{0}
{8} case 11 |
17-
W-
p12/
4-1 |
female/
4y |
PBL |
de novo |
47,XX,+mar[5]/
46,XX[50] |
min(17)(:p1?2→q1?2:) |
cenM,
subcenM |
growth and
DD heart defect, unilateral hypoplasia of
the iris; feeding problems, no speech, only
assisted walking |
{0} provided from Serbia |
***
17-
W-
p11.2/
1-1
°°°
|
female/
prenatal |
AF/
PBL |
de novo |
47,XX,+mar[72]/
46,XX[28]
(in PBL) |
min(17)(:p11.2→q11.1:)*
17.75 MB - centromeric region |
CGH;
locus-specific probes; aCGH |
mild DD;
small iVSD; abnormal EEG; at 4y height 97th
centile, weight 50th centile and OFC 97th
centile; some minor DYSin the face and long
fingers |
{21} case 1934 |
17-
W-
p11.2/
1-2
°°°
|
male/
5y |
PBL |
n.a. |
47,XY,+mar[20] |
min(17)(:p11.2→q11.1:)*
20.07 MB - centromeric region |
SKY;
locus-specific probes, aCGH |
see below |
{21} case 2170 |
at birth OFC
at 10th centile and weight ~30th centile;
postnatal weight ~5th centile; delayed
speech and language development; at 5y
dwarphism, clinodactyly of 5th finger, joint
laxity and mild hypotonia |
17-
W-
p11.2/
2-1
°°°
|
female/
7y |
PBL |
de novo |
47,XX,+mar[48]/
46,XX[2] |
min(17)(:p11.2→q10:)* PMP22-; SMS+ |
n.a.;
locus-specific probes |
MR, DD,
language impairment, sleep disturbances,
mild hypotonia during childhood; seizures
since age of 4y; no significant behavioral
abnormalities or DYS |
{22; 26} |
17-
W-
p11.2/
2-2 |
female/
n.a. |
PBL |
de novo |
47,XX,+mar[8]/
46,XX[12] |
min(17)(:p11.2→q11.1:)* SMS+ |
n.a.;
locus-specific probes |
abnormal |
{56} |
17-
W-
p11.2/
2-3
°°°
|
female/
4y |
PBL |
n.a. |
47,XX,+mar[60%]/
46,XX[40%] |
min(17)(:p11.2→q11.1:)
aCGH: 8.5 MB gain |
aCGH |
DD, language
impairment, symptomatic epilepsy, behavioral
problems, congenital corneal opacity of the
right eye, and dysmorphic features mimic PLS
facial appearance |
{66} |
17-
W-
p11.2/
3-1 |
male/
7y |
PBL |
n.a. |
47,XY,+mar1[2]/
47,XY,+mar2[1]/
46,XY[22] |
r(17)
(::p11.2→q11.2::)[1]/
min(17)(:p11.2→q11.2:)[1]/
min(17)(:p11.2→q11.1:)[2] |
cenM,
subcenM |
small
stature, requested for 22q11 testing. |
{0} provided from Belgium |
17-
W-
p11.2/
3-2 |
female/
6y |
PBL |
de novo |
47,XX,+mar[15]/
46,XX[5] |
r(17)
(::p11.2→q11.2::)
aCGH: 20.95-23.98
also dup2p23.3p22.3 mat |
different
FISH-probes, aCGH |
global DD,
tall stature and large size |
{54} case 9 |
17-
W-
p11.2/
3-3
°°°
|
male/
22y |
PBL |
n.a. |
47,XY,+mar[82%]/
46,XY[18%] |
r(17)
(::p11.2→q11.2::)
aCGH: 21.20-27.80 |
aCGH
cep 17 |
Tourette
syndrome; ADHD and intellectual disability |
{64; 65} |
17-
W-
p11.2/
3-4
°°°
|
male/
4y |
PBL |
de novo |
47,XY,+mar[21]/
46,XY[5] |
mar(17)(:p11.2→q11.2:)
aCGH [hg19]: 21.71-28.61 |
aCGH |
speach delay
(10 single words at 4y), lack of social
competence, impulsive, agressive; motor mile
stones normal |
{0} provided from Germany
|
17-
W-
p11.1/
1-1 |
male/
20m
|
PBL |
de novo |
47,XY,+r[8]/
46,XY[12] |
r(17)(::p11.1→q21::) |
different
alpha satellite probes; midi |
see below |
{19} |
patient born
3w prematurely after normal pregnancy; birth
weight 2400g; developmental delay; never
developing speech; severe respiratory
allergies, asthma, croup, ear infections;
scoliosis; calcaneovalgus deformity of feet,
bilateral cataracts at 22y, hypoplastic
optic nerves, dematerialized bone structure;
at 38y profound mental retardation - IQ 20;
OFC at 10. centile; height and weight [lt]5.
centile; abnormal ears; heart murmur; severe
kyphoscoliosis; hypotonia. |
***
17-
W-
p11.1/
2-1
°°°
|
male/
newborn |
PBL |
n.a. |
47,XY,+mar[13]/
46,XY[17] |
min(17)(:p11.1→q11.2:)
aCGH: 23,086,100-32,754,790 MB |
cenM;
subcenM;
aCGH |
DD |
{0} provided from
Australia |
17-
W-
p11.1/
2-2 |
see 17-Ud-2 |
17-
W-
p11.1/
3-1
°°°
|
male/
postnatal? |
PBL? |
n.a. |
47,XY,+mar[93%]/
46,XY[7%] |
mar(17)(:p11.1→q11.2:) |
aCGH |
abnormal |
{49} case 30218 |
17-
W-
p11.1/
4-1
°°°
|
male/
2y |
PBL; buccal
mucosa |
de novo |
47,XY,+mar[35]/
46,XY[52]
in buccal muccosa: sSMC in 32% |
min(17)(:p11.1→q11.2:)
aCGH: size ~10MB |
FISH, ceps
and RAI1
aCGH |
short
stature, minor facial DYS and DD (especially
speech delay); Potocki-Lupski syndrome |
{51} case 1 |
***
17-
W-
p11.1/
4-2
°°°
|
female/
3y |
PBL |
de novo |
47,XX,+mar[100%] |
min(17)(:p11.1→q11.2:)
aCGH: break in q at 27.72MB (hg19) |
FISH, aCGH |
DD, facial
abnormalities, gastroesophagial reflux,
polycystic ovary, supernumerary nippel,
hypotonia |
{60} |
17-
W-
p11.1/
4-3
°°°
|
female/
4y |
PBL |
de novo |
47,XX,+mar[100%] |
min(17)(:p11.1→q11.2:)
aCGH: break in q at
27.71 Mb (hg19) |
FISH, aCGH |
see below |
{69} |
born after
36 wog: weight 2600g (10th-25th percentile),
length 47cm (25th-50th
percentile), OFC 32cm (25th-50th
percentile). At 2 months gastroesophageal
reflux. Walking at 18 months; first words at
3 years. Craniofacial features: round face,
microstomia, small chin and down-slanting
palpebral fissures, small lobules of both
ears, myopia and anisometropi, mild general
hypotonia with hypoplasia of orbicular oris
muscle and levatorangulioris muscle,
supernumerary nipple on the left side,
proximal placement of the thumbs and
polycystic ovary, small hypopigmented skin
lesion on right thigh.. Speech skills
delayed for at least 1.5 years. Poor social
interactions and severe hyperactivity. Once
a year she is re-evaluated by the clinical
geneticist. Her developmental abilities are
constantly improving but are still delayed
for her biological age. At the age of 4 she
uses limited number of words in few-word
sentences and understands simple commands.
Her speech is sometimes still unclear and
problems with hyperactivity persist. At 4.2
years developmental quotient to be 0.68,
representing significant DD |
17-
W-
p11.1/
5-1
°°°
|
male/
prenatal |
AF/ PBL |
de novo |
AF:
47,XY,+mar[12]/
46,XY[15]
PBL:
47,XY,+mar[27]/
46,XY[13] |
min(17)(:p11.1→q11.2:)
aCGH: break in q 27.73MB (hg19) |
aCGH |
VSD, DD and
speech delay |
{67} |
|
case
no.
|
gender/
age at diagnosis
|
studied
material
|
de
novo/
Inherited
|
GTG-banding
and final FISH result
|
test
methods
|
clinical
symptoms
|
Reference
|
17-
W-
IMB-
p12/
1-1
|
male/
prenatal
|
AF; PBL
|
de novo
|
46,XY,der(21)t(17;21)(p12;p11.1)
|
SKY
|
see below
|
{30}
|
large cystic
hygroma in 15 week of gestation; directly
postnatal: aortic coarctation, left
equinovarus deformity, bilateral dilated
urethra, deep-set ears, prominent nasal tip,
smooth philtrum, single transverse crease on
right hand, redundant neck skin folds,
length 25th centile, weight normal, OFC 75th
centile. At 7months: weight <5th centile,
length 5th centile, OFC 10th centile |
17-
W-
IMB-
p12/
2-1 to
2.2 |
2 cases with
partial trisomy 17p12→p11.2 are summarized
in Ref {32-33} |
{32; 33}
|
17-
W-
IMB-
p11.2/
1-1
°°°
|
female/
5y
|
PBL
|
de novo |
46,XY,dup(17)(p11.2q11) |
n.a. |
see below |
{37}
|
normal
pregnancy, at birth weighing 3.035 kg,
length 51 cm, head circumference 34 cm. cord
wrapped tightly around neck causing cyanosis
but was resuscitated easily ->APGAR score
8 at 2 min. At 3 months feeding difficulties
and failure to thrive. Narrow palpebral
fissures, antimongoloid slant to the eyes,
large down-turned mouth, high arched palate
and micrognathia, somewhat pointed ears, and
muscular hypotonicity. At 2.5 years
prolonged left-sided convulsion associated
with a febrile illness. Delayed neurological
development was noted at 9 months and
subsequent development was retarded in all
spheres. She walked at 3.5 years, and at 4
years verbal comprehension level was 1 05
years and her expressive language level was
1 04 years. |
17-
W-
IMB-
p11.2/
2-1
|
male/
1.5y
|
PBL
|
de novo |
46,XY,dup(17)(p11.2p11.2) |
locus
specific probes |
Alport
syndrome |
{36}
|
17-
W-
IMB-
p11.2/
2-2
|
male/
3y |
PBL
|
de novo
|
46,XY,ins(5;17)(p13.1;p12p11.2)
|
midi
|
multiple
anomalies |
{70}
|
17-
W-
IMB-
p11.2/
2-many
|
46,dup(17)(p11.2p11.2) -
can also be Charcot Marie Tooth disease
{38} and
Potocki-Lupski syndrome {39} see also {45} |
{38; 39; 42, 45}
|
17-
W-
IMB-
q11.1/
1-1
°°°
|
male/
5y
|
PBL
|
de novo
|
46,XY,dup(17)(q11.1q12)
aCGH: 22.66-35.06 MB
|
aCGH
|
psychomotor
delay and minor abnormalities
|
{53}
|
|