We also present a family member with 11q24.2-qter trisomy and 22q13.33-qter monosomy, whose clinical phenotype is partially overlapping with several dysmorphic features of JBS. [pubmed.ncbi.nlm.nih.gov]

Here, we present 2 siblings with a rare 22q13qter duplication and only mild symptoms, detected by array CGH and FISH, whose mother is a carrier of a pericentric inversion of chromosome 22. [karger.com]

Mosaic trisomy 22: a case presentation and literature review of trisomy 22 phenotypes. Am J Med Genet. 1997;71(4):406-13. de Pater JM, Schuring-Blom GH, van den Bogaard R, van der Sijs-Bos CJ, Christiaens GC, Stoutenbeek P, et al. [rarediseases.org]

The condition is present in approximately one out of every 2,000 to 4,000 live births, and in 5-8 percent of children born with cleft palate. [chop.edu]

• Trisomy 21

  21, also known as Down syndrome, which is a more widely recognized chromosomal disorder. [chop.edu]

  John Wiley & Sons, New York Chichester Brisbane Toronto Google Scholar Hall G (1963) Mongolism and other abnormalities in a family with trisomy 21–22 tendency. [link.springer.com]

• Developmental Delay

  Karger AG, Basel Established Facts • Terminal deletion of chromosome 22q is a rare disorder with variable degree of developmental delay and association of morphological symptoms. [karger.com]

• Vomiting

  Ventricular septal defect Atrial septal defect Interrupted aortic arch Truncus arteriosus Vascular ring Feeding difficulties Nasal regurgitation (spitting up through the nose), which may happen because of a cleft palate Repeated bouts of spitting up or vomiting [chop.edu]

• Long Arm

  Summary Translocation between the long arms of chromosomes 11 and 22 is usually detected in offspring with an unbalanced karyotype following a 3:1 disjunction resulting in “partial trisomy.” [link.springer.com]

  arm of chromosome 20 with high phenotypic variability. [wordscope.com]

  Analysis of metaphase chromosomes revealed that one of the chromosomes 22 contains two 22q13.3 regions, one on the short arm and one on the terminal end of the long arm (Fig. 2A). [karger.com]

  Chromosomes are also divided into two parts called "arms." The top half is the short or "p" arm and the bottom half is called the long or "q" arm. When a baby is conceived with either too much or too little genetic material, birth defects can occur. [chop.edu]

• Short Arm

  Analysis of metaphase chromosomes revealed that one of the chromosomes 22 contains two 22q13.3 regions, one on the short arm and one on the terminal end of the long arm (Fig. 2A). [karger.com]

• Psychomotor Retardation

  This and six previous similar instances are compared, and a distinct syndrome is delineated as follows: growth and psychomotor retardation, microcephaly or hydrocephaly, brain malformation, defective skull ossification, hypertelorism, narrow palpebral [pubmed.ncbi.nlm.nih.gov]

[Fatigue Syndrome: diagnosis, treatment and organisation of care] | KCE Syndrome de Fatigue Chronique : diagnostic, traitement et organisation des soins | KCE [Fatigue Syndrome: diagnosis, treatment and organisation of care] Syndrome de Fatigue Chronique [wordscope.com]

Treatment for 22q11.2 deletion syndrome varies depending on your child’s symptoms. Because your child’s genetic makeup can't be changed, doctors can't "cure" the 22q11.2 deletion. [chop.edu]

Genetic services offer families who have experienced a birth problem (including the 22q11.2 deletion) valuable information, including: Information about the problem's cause Your chances of having another child with the same problem Information about prognosis [chop.edu]

[…] doivent collaborer davantage | KCE [KCE] Press release : KCE Reports 88 Fatigue Syndrome: diagnosis, treatment and organisation of care Syndrome de fatigue chronique: les prestataires de soins doivent collaborer davantage [Home Monitoring of Infants in Prevention [wordscope.com]