Case Presentation: A new born infant boy was referred to the NICU of our department with suspected congenital heart disease and dysmorphism. [nijp.org]

It is important to note that exceptions may also occur, where individuals with small amount of chromosomal gains, may have disproportionately severe presentations. [dovemed.com]

Finally, in the present observation the duplicated 7p13-p21.1 segment also includes the GLI3 gene and the homeobox HOXA gene complex. [jmg.bmj.com]

Paternal alleles are presented with a light blue background; maternal alleles are presented with a pink background. [mdpi.com]

Treatment is based on the signs and symptoms present in each person.[10122] For more information, visit GARD. [rarediseases.org]

• Disability

  Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. [rarediseases.org]

  Features that often occur in people with Chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. [rarediseases.info.nih.gov]

  The resulting syndrome, dubbed Dup7, can lead to intellectual disability, language problems and social anxiety. A deletion in the same region leads to Williams syndrome, a condition characterized by intellectual disability and extreme friendliness. [spectrumnews.org]

  The signs and symptoms that are commonly noted with Chromosome 7p Duplication Syndrome include delayed growth and development, feeding challenges, abnormal facial features, intellectual disability, and behavioral issues This chromosomal anomaly may develop [dovemed.com]

• Developmental Delay

  […] like hypotonia, global developmental delay and cryptorchidism. [qscience.com]

  Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. [rarediseases.org]

  Features that often occur in people with Chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. [rarediseases.info.nih.gov]

  Sanger Biology American journal of medical genetics 1995 A 10-month-old female with developmental delay and failure to thrive was referred for genetic evaluation as part of an adoption assessment, and Chromosome analysis showed an inverted duplication [semanticscholar.org]

• Fishing

  Fig. 3 FISH analysis of the mother's chromosomes. [nature.com]

  To delineate this chromosomal abnormality further, we performed FISH studies using cosmid and YACs clones encompassing different loci mapping along chromosome 7p. [jmg.bmj.com]

  Fluorescent in situ hybridization (FISH), using a whole chromosome 7 DNA probe (Cytocell, Inc., UK), confirmed that the extra chromosome material is derived from chromosome 7, indicating that the patient is… 18 Citations Molecular genetics of autism spectrum [semanticscholar.org]

  The same FISH pattern was observed in the proband’s sister. In order to achieve a better definition of the inversion breakpoints, a panel of BAC FISH probes was used. [mdpi.com]

  Pericentric inversion with partial 7(q35→qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient. [sciendo.com]

• Failure to Thrive

  Sanger Biology American journal of medical genetics 1995 A 10-month-old female with developmental delay and failure to thrive was referred for genetic evaluation as part of an adoption assessment, and Chromosome analysis showed an inverted duplication [semanticscholar.org]

  Physical examination revealed failure to thrive. He has subnormal visual development and developmental delay. The patient has lost follow up after that. [nijp.org]

  The potential complications of Chromosome 7p Duplication Syndrome may include the following: Severe emotional stress for parents and caregivers Pregnancy complications Failure to thrive Delayed milestone achievement Poor growth due to malnutrition caused [dovemed.com]

  Schaefer et al.8 reported a child with dup(7)(p13→p12.2) who had failure to thrive, developmental delay, a mildly beaked nose, and clinodactyly. Her mother, grandmother, and one brother also had the duplication and were mildly retarded. [nature.com]

• High Arched Palate

  arched palate, joint dislocation or contractures, a high frequency of cardiac septal defect, and mental retardation. [jmg.bmj.com]

  The clinical features associated with such chromosome anomaly comprises of large fontanelles and sutures, hypertelorism, large, apparently low set ears, high arched palate, hip joint dislocation or contractures, a high frequency of cardiac septal defect [nijp.org]

  […] or prominent forehead; broad or prominent nasal bridge; micrognathia; high arched palate; hyperextensible joints; cardiac defects; and psychomotor retardation. [nature.com]

• Systolic Murmur

  Heart examination showed a grade 2/6 systolic murmur with maximum intensity in the mitral valve area and a B1 click. [jmg.bmj.com]

• Joint Dislocation

  They comprise large fontanelles and sutures, hypertelorism, large, apparently low set ears, high arched palate, hip joint dislocation or contractures, a high frequency of cardiac septal defect, and mental retardation.1-5 It usually results from malsegregation [jmg.bmj.com]

  […] subject to dislocation, joint contractures, and a high rate of cardiac septal defects (1). [nijp.org]

• Hyperlaxity

  She had hyperlaxity of elbows and interphalangeal joints, as well as small dysplastic nails. [nature.com]

• Strabismus

  There was a long nose with a broad nasal bridge, bushy eyebrows, mild ptosis of the right eyelid, convergent strabismus, and moderate hypertelorism. Ears were low set and protruding, with poorly folded helices. [jmg.bmj.com]

  Fig. 1 Patient at age 13 years and 5 months showing a long face with long and down slanting palpebral fissures, strabismus, high nasal bridge and prominent jaw (a); patient ear showing prominent antihelix and dysplastic concha (b); right foot with overriding [nature.com]

• Esotropia

  He was normocephalic, had normal milestones, meatal stenosis, bilateral esotropia and mild scoliosis. [qscience.com]

• Low Set Ears

  Several reports suggest a set of recognizable phenotypes that involve severe/profound psychomotor retardation, dolichocephaly or microbrachycephaly, gaping fontanels and wide sagittal and metopic sutures, hypertelorism, large apparently low-set ears, [nijp.org]

  Ears were low set and protruding, with poorly folded helices. In addition, a deep and short philtrum, a thin upper lip, a small mouth with downturned corners, a high arched and narrow palate, a bifid uvula, and a massive chin were observed. [jmg.bmj.com]

• Suggestibility

  The region 7p21.1 to 7p22.2 observed in our patient has been suggested to be the critical region for the manifestations of the 7p duplication phenotype. [qscience.com]

  A comparative analysis of our case with those published previously suggests that the 7p21.1-p21.2 region might contain a critical region for the 7p duplication syndrome. [jmg.bmj.com]

  “Because we’re seeing similar levels of risk with the Williams kids, that suggests that there’s something going on with this region in general that is conferring risk,” says lead researcher Bonita Klein-Tasman, professor of psychology at the University [spectrumnews.org]

  This article includes suggestions for speech and language intervention. Click here to view this publication. [louisville.edu]

  Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark. Hum. Mol. Genet. 2003, 12, 1005–1019. [mdpi.com]

• Beaked Nose

  Schaefer et al.8 reported a child with dup(7)(p13→p12.2) who had failure to thrive, developmental delay, a mildly beaked nose, and clinodactyly. Her mother, grandmother, and one brother also had the duplication and were mildly retarded. [nature.com]

• Broad Nasal Bridge

  There was a long nose with a broad nasal bridge, bushy eyebrows, mild ptosis of the right eyelid, convergent strabismus, and moderate hypertelorism. Ears were low set and protruding, with poorly folded helices. [jmg.bmj.com]

• Delayed Milestone

  The potential complications of Chromosome 7p Duplication Syndrome may include the following: Severe emotional stress for parents and caregivers Pregnancy complications Failure to thrive Delayed milestone achievement Poor growth due to malnutrition caused [dovemed.com]

and in some cases, due to treatment also. [dovemed.com]

Treatment is based on the signs and symptoms present in each person.[10122] For more information, visit GARD. [rarediseases.org]

Treatment is based on the signs and symptoms present in each person. [ GARD : 0005355 ] Tree view Term mappings Preferred root terms All terms This is just here as a test because I lose it Term information database cross reference UMLS:C0795820 (MONDO [ebi.ac.uk]

Treatment is based on the signs and symptoms present in each person. [from MONDO] Etiology Alfonsi M, Palka C, Morizio E, Gatta V, Franchi S, Guanciali Franchi P, Zori R, Calabrese G, Palka G, Chiarelli F Cytogenet Genome Res 2012;136(1):1-5. [ncbi.nlm.nih.gov]

PMID: 11788094 Prognosis Wilde JR, Teele RL, Aftimos S Pediatr Radiol 2006 Aug;36(8):863-5. Epub 2006 Jun 7 doi: 10.1007/s00247-006-0179-1. [ncbi.nlm.nih.gov]

[…] other patients. 4,7 Many phenotypic features common of 7p duplication syndrome were present in our patient (Table I) as described in earlier reviews. 3,6,8 Noticeably, our patient did not have any cardiovascular abnormalities and thus showed better prognosis [qscience.com]

Accurate characterization of the CCR can be especially important for the prognosis and management of living unbalanced offspring. [nature.com]

[from MONDO] Etiology Alfonsi M, Palka C, Morizio E, Gatta V, Franchi S, Guanciali Franchi P, Zori R, Calabrese G, Palka G, Chiarelli F Cytogenet Genome Res 2012;136(1):1-5. Epub 2011 Nov 12 doi: 10.1159/000334111. [ncbi.nlm.nih.gov]

(Etiology) Chromosome 7p Duplication Syndrome is caused by the presence of extra chromosomal material on the short arm (p) of chromosome 7. [dovemed.com]

National Birth Defects Prevention Network. Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol. 2010;88:1008-16. [labtestsonline.it]

How can Chromosome 7p Duplication Syndrome be Prevented? Chromosome 7p Duplication Syndrome may not be preventable since many of these genetic disorders are diagnosed at or following the birth of the child. [dovemed.com]

This rare condition is characterized by the premature fusion of certain skull bones (craniosynostosis), which prevents the skull from growing normally and affects the shape of the head and face. [medlineplus.gov]

Although none of the patients with interstitial duplications were trisomic for segment 7p22.2→7pter of the critical region, patient variability prevents further narrowing of the critical region. [nature.com]