Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism.

Study Overview
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Brief Summary
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The principal result expected is the discovery of inframicroscopic chromosomal rearrangements in regions of the genome not yet known to be involved, or mutations in known candidate genes; The identification of such a mosaic rearrangement in an affected infant would lead to improved genetic counselling. Indeed, as this mosaicism is a consequence of a genetic event occurring at an early stage of embryogenesis, it would be possible to confirm the sporadic nature of the observed disorder and therefore to predict a very low or even negligible risk of recurrence for the couple concerned. For the affected infant, the risk for his/her own offspring will be assessed according to the nature of the genetic anomaly discovered. For medical practice, investigators hope that this study will lead to a clearer definition of the screening modalities for mosaicism in the disorders concerned. In particular, they hope to determine whether or not it is possible to dispense with a skin biopsy, which is more invasive than a blood sample.

Official Title
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Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism. National Multicentre Descriptive Study.

Conditions
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Malformations With Skin Manifestations Suggesting Mosaicism

Intervention / Treatment
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* Biological: Peripheral blood samples in EDTA tubes
* Procedure: Skin biopsies


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Persons who have provided written informed consent Lower age limit: infant born at more than 37 WA Sporadic disorder Patients presenting at least two skin criteria, or one skin criterion and one non-skin criterion Skin criteria: 1- extensive epidermal or sebaceous naevus, 2- Extensive segmental haemangioma, 3- Flat angioma or extensive complex vascular malformation, 4-Pigmentary disorders with patterns suggesting mosaicism (Blaschko lines) Non-skin criteria: Cerebral, ocular, cardiac or genito-urinary malformation, asymmetric body, segmental hypertrophy of a limb, spinal dysraphism (only when associated with haemangioma) Exclusion Criteria: Persons not covered by the national health insurance scheme Mendelian disorders: CM-AVM syndrome, glomangiomatosis, Cowden or Bannayan syndrome, type 1 neurofibromatosis, incontinentia pigmenti, CHILD syndrome, Happle-type chondrodysplasia punctata Mendelian mosaic disorders: epidermal or epidermolytic, comedo or dyskeratotic nevus. Family history of one of these disorders Suspicion or an autosomal dominant disease Patient and/or parent under guardianship or ward of court

Ages Eligible for Study
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Minimum Age: 37 Weeks

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Parents<br>2 parents of child | Biological: Peripheral blood samples in EDTA tubes<br> <br> |
| Other: infant<br> | Biological: Peripheral blood samples in EDTA tubes<br> <br> Procedure: Skin biopsies<br> <br> |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Presence or not of inframicroscopic chromosomal rearrangements |  | baselines | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Rate of detection of a chromosomal anomaly |  | baselines |