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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: 5 messages/4 PT Req.
From: Carlo Gambacorti <GAMBACORTI@ICIL64.CILEA.IT>
Date: Fri, 20 Sep 1996 14:31:00 +0000
Date-warning: Date header was inserted by ICIL64.CILEA.IT

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           HUM-MOLGEN  DIAGnostics/Clinical Research
**************************************************************


This DIAG message contains 5 submessage(s):

1)      18q - syndrome/PT Request

2)      Cardiac malformation (holt horam) and genetics/PT Request

3)      Leigh's Disease/PT Request

4)      Fryns syndrome/PT Request

5)      4p- syndromes  (Wolf-Hirschhorn  and Pitt-Rogers-Danks Syndromes)



  Carlo Gambacorti MD, Editor,
  Human Molecular Genetics Network
  Diagnostics/Clinical Research Section


PS      this week some internal messages among HMGN editors were erroneously
distributed to the list.
        We apologize for any inconvenient this may  have caused to you.

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Can you supply any information regarding 18q - syndrome (long arm 18
deletion syndrome). Can it be hereditory ? If so, how can it be tested for
if both parents' chromosomes are normal? Has it ever been documented as
occurring after a raised alpha fetum test (for spina bifida) done in the
14th/16th week of pregnancy? We are not medical people, and are enquiring
concerning a grandchild aged six weeks with this diagnosis.

Perhaps you can refer us to an information source.

Apparent patient location: South Africa (near Johannesburg)

PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK

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Hello.
I'd like to have some informations on this desease as a non profecianal.
My daughter died a fiew month ago after a chirugical act on her heart.
Her problem is named in france CIA (communication inter auriculaire).
Are there numerous cases of this desease and some problems recorded during
chirugical acts?
I find lots of difficults to obtain informations about the syndrom of holt
horam and it's statistics.
We wish to have other childrens, is there a risk for them? How can I
identify this risk?
My wife and I had examined our heart and hands without spicials results.
A lot of thanks for your help. We need it to start anew.
Patrick.

Apparent patient location: France

PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK

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Subject: Leigh's Disease

I would like information about how rare it is, who gets it, syntoms,
prognosis i.e is it possible to survive over 19 years of age, can something
similar be caused by drugs (what kind?) and last for over 15 years and
possible treatments,


Apparent patient location: Canada

PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK

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I have got a baby with what looked like a Fryns syndrome with
diaphragmatic eventration, coarse facies-broad nasal bridge, frontal
bossing,retrognathia, thick lips, terminal digital hypoplasia especially
over the 4th and 5th digits, cardiac dextroposition with small ASD, 13
pairs of ribs + vertebral malsegmentation, unable to retain with
laporotomy done - pyloric hypertrophy + common mesentery and agenesis of
corpus callosum + cerebellar hypoplasia.
No cleft palate, no structural renal anomalies, no broad medial ends of
clavicle. Karyotype 46 XX
Baby is now 3 month old on ventilator - cannot feed and cannot wean off
the respirator -?pulmonary hypoplasia.  The diaphragmatic eventration
disappeared on subsequent CXRs and the abdominal aspect of the diaphragm
appeared normal during laprotomy. The diaphragmatic eventration is thought
to be due to
transient phrenic nerve injury.
I would appreciate your comments and views on this "disappearance" of the
diagragmatic
eventration and what implication it has on the diagnosis of Fryns?


Apparent patient location: Singapore

PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK


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Dear Sir,
dear madam,
I am working in the field of 4p- syndromes, especially Wolf-Hirschhorn
Syndrome (WHS) and Pitt-Rogers-Danks Syndrome (PRDS) to delineate the
critical gene region of these syndromes.
For both syndromes the patients have characteristic facial anomalies
like widely spaced eyes, low set ears and a cleft lip/palate. They
always are mentally retarded due to brain malformation,
microcephaly and severe pre- and postnatal growth retardation.
Both syndromes are caused by subtelomeric deletions of 4p16.3.

I am looking for patient material of patients with either no deletion
(not visible with the common cytogenetic methods) with a WHS or PRDS
phenotype, WHS/PRDS patients with small deletions, but also patients
with a WHS/PRDS phenotype due to an unbalanced (or balanced)
translocation where one of the breakpoints could be (likely) inbetween
the critical gene region of WHS/PRDS.

Thank you very much.

Please contact:
Ingrid Stec
Anthropogenetica
Sylvius Laboratory
Wassenaarseweg 72
2333 AL Leiden
NIEDERLANDE

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