Re: genetic (Amy)

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In a message dated 12/10/01 11:24:40 AM Pacific Standard Time, writes:

> Can you tell me more about 1p36 deletion? Is their a name for it? What are

> the characteristics?

Hi Amy

No, there is not a name for they syndrome. 1p36 deletion is the name. I was

told that they have stooped naming syndromes after doctors and now they just

call them what it is. I think Mollie Syndrome sounds much better.

Here is a description of the syndrome. I will e-mail you a picture of

Mollie.

Clinical Characterization of the Neurogenetic Disorder and 1p36 Deletion

Syndrome

A. K. Chedrawi, A. E. , D. Armstrong, F. R. Brown, B. Tharp, and S.

K. Shapira; Houston, TX

The 1p36 deletion syndrome is a recently recognized, relatively common

neurogenetic disorder with an extensive spectrum of clinical features,

including developmental delay and seizures. It is often these neurological

features of the syndrome that precipitate the initial evaluation. Other

commonly associated clinical features include hypotonia, sensorineural

hearing loss, characteristic dysmorphic features, and microcephaly. An

increased awareness of the clinical features of the 1p36 deletion syndrome

will enhance early diagnosis and lead to improved management of the affected

individuals. In the current study, we report the results of extensive

clinical evaluations of 21 children with the 1p36 deletion syndrome.

Diagnostic evaluation included molecular genetic analysis, physical and

neurological examination, neurodevelopmental assessment, EEG, brain MRI,

audiological evaluation, and assessment of endocrine and cardiac function.

Common phenotypic features were brachycephaly, thickened ear helices, ear

asymmetry, deep-set eyes, flat nasal bridge, pointed chin, and fifth finger

clinodactyly. Postnatal growth retardation was commonly seen. Less common

features were dilated cardiomyopathy, cleft lip and palate, hypothyroidism,

and early puberty. Most children had moderate to severe neurodevelopmental

delay with severe impairment of speech and self-mutilative behavior.

Abnormalities on EEG and seizures were present in 44% of the children,

including 2 with hysparrhythmia and infantile spasms. Leukoencephalopathy was

present in 76% of the children. Postmortem neuropathological evaluation in 1

case demonstrated CNS migrational abnormalities. Molecular characterization

in these patients has revealed a variability in the size of the 1p36

deletion. These findings are currently being used for genotype/phenotype

correlations in the 1p36 deletion syndrome.