European Human Genetics Conference 2007 June 16 – 19, 2007 ...

Cytogenetics
P0306. Lipoatrophic panniculitis and developmental delay
associated with an interstitial deletion of chromosome 10q
S. A. McKee 1 , A. Beckett 2 , M. Rooney 3 ;
1 Department of Medical Genetics, Belfast City Hospital, Belfast, United Kingdom,
2 Northern Ireland Regional Cytogenetics Laboratory, Belfast, United
Kingdom, 3 Rheumatology Department, Musgrave Park Hospital, Belfast, United
Kingdom.
A three year-old girl presented with a history of an erythematous rash
on the lower limbs that was followed by widespread atrophy of fat all
over the body, but sparing the head. Skin biopsy revealed findings in
keeping with Weber-Christian panniculitis (WCP), but no other signs
or laboratory findings of autoimmune disease. She later developed a
patch of morphoea in the epigastric region. She had had a history of an
operation to remove an area of fibroepithelial hyperplasia on the hard
palate as a baby, and she had a known diagnosis of mild pulmonary
valve stenosis and a small ventricular septal defect (now closed). She
had a broad face but was not strikingly dysmorphic. Speech development
was very significantly delayed, and other aspects of development
were only mildly delayed. Chromosome analysis revealed an interstitial
deletion of chromosome 10q, ISCN: 46,XX,del(10)(q21.2q22.1).
Further analysis to refine the breakpoints is ongoing. WCP is a rare
autoimmune condition resulting in the inflammatory destruction of fat
cells and localised or generalised lipoatrophy. Deletions of this region
of chromosome 10q are rare, although WCP has been reported in a
case of an unbalanced translocation of 10p material onto 10q26. We
postulate that a gene (or genes) within our patient’s deleted region is
involved in WCP (and potentially similar autoimmune disorders).
P0307. Prenatal diagnosis of a de novo partial duplication of
the long arm of chromosome 17 in a foetus with polydactyly,
cardiopathy and hydrocephaly
D. J. Lederer 1 , C. Debauche 2 , J. Biard 3 , Y. Gillerot 1 , M. Ravoet 1 , C. Sibille 1 , W.
Courtens 1 ;
1 Center of Human Genetics, University Hospital St-Luc, 1200 Brussels, Belgium,
2 Department of Neonatology, University Hospital St-Luc, 1200 Brussels,
Belgium, 3 Department of Obstetrics, University Hospital St-Luc, 1200 Brussels,
Belgium.
We report a female dysmorphic infant born at 37 weeks of gestation
who presented polydactyly, hydrocephaly, short limbs, a VSD, and hypotonia.
Fetal ultrasounds performed at 29 weeks of gestation showed
IUGR, short limbs, cardiopathy, and hydrocephaly. The clinical diagnosis
of Ellis-van Creveld syndrome was evoked. Amniocentesis was
performed and revealed a partial duplication of chromosome 17, confirmed
by FISH analyses. Parental karyotyping was normal, indicating
a de novo anomaly in the child. Parents decided to continue the pregnancy.
At birth, the baby had dysmorphic features, including small and
low-set ears, long philtrum, micrognathia, midface hypoplasia, downturned
corners of the mouth with thin lips, low-set and wide-spaced
nipples, short neck, pre- and postaxial hexadactyly of upper and lower
limbs, single palmar crease, rhizomelia, wide anterior fontanel, hyperlaxity
of knees, and hirsutism. She was hypotonic, had feeding difficulties,
and died after ten days of life from a necrotizing enterocolitis.
Postnatal karyotyping confirmed the partial duplication of chromosome
17q. Microarray CGH confirmed the duplication of chromosome 17q
for the region localized between q21.31 and q23.2. A pure partial duplication
of the long arm of chromosome 17 for this region has only
rarely been reported so far. Clinical findings present in our case are
compared to those of other reported cases with dup(17q).
P0308. Phenotype-genotype correlation in Egyptian patients with
chromosome 18 aberrations
S. A. Hammad, H. T. El Bassyouni, A. S. El-Gerzawy, M. I. Shehab;
National Research centre, Cairo, Egypt.
The purpose of the present study was to provide an insight into the understanding
of the relationships between the clinical phenotypes and
chromosome 18 abnormalities.
Fifteen patients were recruited with chromosome 18 abnormalities (8
males 7 females).
Their age ranged from 2 months to 28 years. Positive consanguinity
was present in 9 patients. Similarly affected sibs in the family were
found in 5 patients. There was delayed milestones and broad forehead
in 9 patients (60%), ear abnormalities in 12 (80%), short stature was
present in 3 patients (20%), epilepsy in 4 (26.7%), eye anomalies in
10
7 patients (46.7%) and recurrent abortion in 2 patients, brain demyelination
was present in 9 patients accompanied with hypgenesis of
corpus callosum in 3 patients and mental retardation was present in 7
patients. Chromosomal studies showed 18 deletion in 7 patients (deletion
of 18p in 5 patients and 18q in 2 patients), translocation in 3, and
duplication in 2 patients, inversion in 2 and ring in one patient. The
collection of the cytogenetic and clinical data will help to delineate the
phenotype associated with various chromosome 18 aberrations these
findings will be informative for the families at risk in genetic counseling
and prenatal diagnosis for subsequent pregnancies. In this study
there was bilateral knee dislocation and hyperpigmentation in a case
of 18(q11.2) duplication a finding to our knowledge has not been described
before, which indicate a possible relation ship between chromosome
18 and knee dislocation.
P0309. Case report. A newborn with ring chromosome 21.
I. Vool1 , R. Zordania1 , I. Neupakojeva1 , L. Süvari1 , K. Joost1 , T. Ilus2 , P. Tammur2
;
1 2 Tallinn Children Hospital, Tallinn, Estonia, Tartu University Hospital, Tartu,
Estonia.
A newborn boy with congenital heart and cleft palate malformations
and with hypotrophy -2SD was hospitalized. The chromosome analysis
from cultured lymphocytes was performed using trypsine-Giemsa
method. The chromosome abnormality was established: 46,XY,-
21,+mar. There was very little dark part from chromosome left.
The FISH analysis was performed and revealed a ring chromosome
21:
46,XY,r(21)(::?-q22.13::q22.3->qter).
Usually such abnormalities originate de novo .
The parents refused to give material for chromosome analysis.
Several abnormalities was founded in the clinical evaluation of the
patient: large bilateral cleft palate, microrethrognathia, deep-set eyes,
short palpebral fissures, big nouse, bicuspidal aortic valve, pulmonar
stenosis.
The patient died about 12 month age.
P0310. Five cases with chromosome anomalies involving
chromosome 5 - genotype-phenotype correlation
A. Sireteanu, C. Rusu, M. Voloşciuc, E. Braha, V. Gorduza, M. Gramescu, M.
Covic;
Medical Genetics Center, Iasi, Romania.
We present 5 cases with different abnormalities involving chromosome
5 in order to illustrate suggestive features for the diagnosis, but also
to discuss management directions (investigation protocol and followup).
The cases were diagnosed between 2002-2006 in Iasi Medical
Genetics Center.
Patient 1: (3-year-old female): pregnancy- uneventful; birth- term,
Apgar score 5, Wt 2,700 g; clinical features- failure to thrive, microcephaly,
typical cri-du-chat face and cry, stridor, hyperextensible joints,
hypertrichosis, severe mental retardation; karyotype- 46,XX,del(5p).
Normal echocardiography and ophtalmologic examination.
Patient 2 (3-year-old female): pregnancy- polyhydramnios; birth- term,
intrauterine growth retardation, Apgar score 8; clinical findings- growth
retardation and microcephaly, dysmorphic face, typical cry, bilateral
clynodactyly 5, moderate mental retardation. Echocardiography- subaortic
VSD, tricuspid insufficiency; karyotype- 46,XX,r(5)(p21;q35)/
45,XX,-5/47,XX,r(5)(p21;q35),r(5)(p21;q35). Normal parental karyotypes.
Detailed phenotypical analysis is presented.
Patient 3 (5-year-old male): pregnancy- uneventful; birth- term, Wt
2,600 g; clinical findings- growth retardation, microcephaly, dysmorphic
face, hypertrichosis, irregular toe insertion, severe mental retardation.
Echocardiography- incomplete atrioventricular canal. Karyotype:
46,XY,add(5)(p15).
Patient 4 (male, aged 3 years): pregnancy- uneventful; birth- preterm,
Wt 1,900 g; clinical features- failure to thrive, microcephaly, seizures,
mild dysmorphic face, moderate mental retardation; karyotype: 46,X
Y,ins(8;5)(p23;p11p13). Even if the chromosome formula looked balanced,
we appreciate that the phenotype is related to the breakage
points.
Patient 5: young, unrelated, apparently normal couple with repeated
miscarriages. Female karyotype: normal; male karyotype: 46,XY,ins(
5;4)(q31;q27q31).
Genotype-phenotype correlation and management protocol will be