Project S.F. — Public summary

What this project is

Project S.F. is not a public medical record or a parallel medical report. It is a documentary architecture that brings together primary sources, external literature, hypotheses, corrections and follow-up priorities in a traceable and updateable system.

Organise

Reconstruct chronology, tests, specialties and open questions.

Verify

Check genome builds, coordinates, mechanisms and evidence quality.

Integrate

Connect genomics, clinical systems and daily function without forcing causality.

Prioritise

Separate what matters now from advanced lines requiring a specific question.

Prepare

Turn uncertainty into questions and consultation-ready documents.

Correct

Keep visible records of hypotheses that strengthen, weaken or are withdrawn.

Documentary architecture

MASTER v4.0

Governance

Index, sources, evidence rules and version control.

GEN

Chromosomal basis

8q duplication, 9p deletion, paternal origin and a combined regional model.

CLIN

Seven systems

Neurology, motor, cardiology, metabolism, gastrointestinal, urogenital and sensory-craniofacial.

INT-01

Integration

Potential links among pain, sleep, energy, behaviour, mobility and participation.

MED-01

Roadmap

Questions, missing data, professionals and decisions that may change.

SYN-01 v1.0

Synthesis

What is known, what remains hypothetical and what it may mean for the future.

Confirmed genomic basis

The postnatal microarray documents a large 8q22.2–q24.3 duplication and a terminal 9p24.3 deletion. The paternal karyotype documents an apparently balanced 46,XY,t(8;9)(q22;p24) translocation. The current model interprets both components together.

Key correction: after harmonising the genome build, RFX3, SMARCA2 and VLDLR fall outside the deletion. Previous haploinsufficiency-based explanations were withdrawn.

Documentary sources: Emory Genetics Laboratory postnatal microarray (2011) and paternal karyotype (2025).

Five public lessons

Combined model

No single gene explains the whole presentation.

No progressive global regression documented

The reviewed sources do not document progressive global regression.

Abilities remain present

Learning, relationships, mobility and participation remain central.

Secondary risks matter

Pain, sleep, iron, feeding and sensory barriers may modify function.

Quality of life

The priority is the greatest achievable autonomy with coordinated support.

What this summary does not publish

The full clinical corpus contains health, functional, pharmacological and prospective information about a minor. Full reports, detailed laboratory values, identifiers and individual care priorities are not published.

This content is documentary and educational. It does not diagnose, prescribe or replace the judgement of the professionals responsible for care.

From the case to the method

EchoFather Families turns the learning into a cautious method for organising information, testing hypotheses and preparing better questions.

See the methodology