The patient presents a partial chromosome 21 monosomy (q11.2-->q213) in combination with a chromosome 3p terminal monosomy (p253-->pter) due to an unbalanced de novo translocation. [repositorio.unicamp.br]

Fluorescence in situ hybridization (FISH) studies using 3p subtelomeric probes confirmed the terminal region of chromosome 3 was present. [jhu.pure.elsevier.com]

Abstract We present a boy diagnosed with partial 3p monosomy and partial 4q trisomy. The patient was 9 years of age with intellectual disability, dysmorphic features, and ataxia. [onlinelibrary.wiley.com]

3.19 This could explain why deletions of 3p12–p13 were detected only in the present study. [nature.com]

• Edema of the Hands and Feet

  The female infant was small at birth and had periorbital edema, edema of hands and feet, and bilateral postaxial polydactyly. [findzebra.com]

• Pneumonia

  The infant had low birth weight and length, and the newborn period was complicated by pneumonia and apneic episodes. [findzebra.com]

  He suffered from esophageal reflux at 5 months of age, pneumonia at 8 months and was treated for dacryostenosis at 12 months. At present he has a weight of 11 kg (<P5), height 84 cm (<P5) and head circumference of 48 cm (P25). [bmcmedgenomics.biomedcentral.com]

  He suffered from esopha- geal reflux at 5 months of age, pneumonia at 8 months and was treated for dacryostenosis at 12 months. At present he has a weight of 11 kg (<P5), height 84 cm (<P5) and head circumference of 48 cm (P25). [archive.org]

  He suffered from esopha-geal reflux at 5 months of age, pneumonia at 8 months and was treated for dacryostenosis at 12 months. At present he has a weight of 11 kg (<P5), height 84 cm (<P5) and head circumference of 48 cm (P25). [cyberleninka.org]

• Respiratory Distress

  Kariya et al. (2000) reported a boy with deletion of the short arm of chromosome 3 who had respiratory distress at birth and minor craniofacial anomalies, including long philtrum, thin lips, flat occiput, high broad forehead, hypertelorism, bilateral [findzebra.com]

  She had respiratory distress and feeding difficulties, requiring CPAP in the delivery room and an NG tube during her hospitalization. [hindawi.com]

• Heart Murmur

  Evaluation of a heart murmur by electrocardiography revealed a complete endocardial cushion defect. Cranial ultrasound was normal. [findzebra.com]

• Heart Failure

  The infant died of heart failure due to his serious congenital heart defect at 4 weeks of age. [findzebra.com]

• Periorbital Edema

  The female infant was small at birth and had periorbital edema, edema of hands and feet, and bilateral postaxial polydactyly. [findzebra.com]

• Macula

  Wide nasal bridge MedGen UID: 341441 •Concept ID: C1849367 • Finding Macular hypoplasia MedGen UID: 340322 •Concept ID: C1849412 • Finding Underdevelopment of the macula lutea. [ncbi.nlm.nih.gov]

  Ophthalmoscopic evaluation at age 9 months revealed a prominent and possibly edematous optic disc and a poorly differentiated macula with absence of central and wall reflexes; electroretinography (ERG) was normal. [findzebra.com]

• Hearing Impairment

  impairment and dysmorphic features. [repositorio.unicamp.br]

  impairment Low-set ears Overfolded helix Growth abnormality Fetal growth restriction Growth delay Postnatal growth retardation Short stature Small for gestational age IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; [ncbi.nlm.nih.gov]

  impairment; kidney problems; and/or congenital heart defects. [rareguru.com]

  Reports indicate that some affected individuals may also have hearing loss and/or visual impairment. [rarediseases.org]

• Broad and Flat Nose

  broad and flat nose, long philtrum, downturned mouth, micrognathia, apparently low-set and malformed ears, finger abnormalities, and deafness. [findzebra.com]

• Short Nose

  Conte et al. [2] updated the literature review and listed additional major features including brachycephaly, short nose, prominent philtrum, low-set and/or dysmorphic ears, downturned mouth corners, short neck, abnormal muscle tone, genitourinary malformations [hindawi.com]

• Febrile Seizures

  Two patients had seizures, 1 had febrile seizures, 2 patients had postaxial polydactyly, and 2 had tapering fingers. Three patients had not learned to walk independently at ages 1.5 to 6 years. [findzebra.com]

• Language Delays

  In an addendum, the authors stated that the patient they described met clinical criteria for an autism spectrum disorder (see 209850), with impaired social functioning, language delay, and repetitive behaviors. [findzebra.com]

< Previous section Next section > < Previous section Next section > Standard Therapies Treatment The treatment of Chromosome 3, Monosomy 3p is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

[…] short arm of chromosome 3; 3p- syndrome; Chromosome 3, monosomy 3p25; Chromosome 3pter-p25 Deletion Syndrome; Del(3p) syndrome; Deletion 3p25; Distal 3p deletion; Distal monosomy 3p; Monosomy 3pter; Telomeric monosomy 3p About the Disease Diagnosis & Treatment [rarediseases.info.nih.gov]

Med Genet 18:55–59 CrossRef PubMed CAS Google Scholar Lalatta F, Clerici-Bagozzi D, Salmoiraghi MG, Tagliabue P, Tischer C, Zollino M, DiRocco C, Neri G, Opitz JM (1990), “C” trigonocephaly syndrome: clinical variability and possibility of surgical treatment [link.springer.com]

Chromosomal-aberrations defining uveal melanoma of poor prognosis. Lancet 1992; 339: 691–692. Article CAS PubMed Google Scholar Sisley K, Rennie IG, Parsons MA, Jacques R, Hammond DW, Bell SM et al. [nature.com]

The long-term outlook (prognosis) for people with chromosome 3p- syndrome varies from person to person. [rareguru.com]

A clinical report of cochlear otosclerosis. 62 Lu S...Li Y 33819124 2021 28 Familiar del3p syndrome: The uncertainty of the prognosis. [malacards.org]

Received: 12 December 1991 Accepted: 02 March 1992 Published: 01 June 1992 Issue Date: June 1992 DOI: https://doi.org/10.1007/BF01899740 Key Words chromosome 3 chromosome deletion high-resolution banding Further reading Chromosomal anomalies in the etiology [nature.com]

Cryptorchidism MedGen UID: 8192 •Concept ID: C0010417 • Congenital Abnormality Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, [ncbi.nlm.nih.gov]

However, these malformations may be multifactorial in their etiology. [bmcmedgenomics.biomedcentral.com]

Melanomas of the eye and other non-cutaneous sites: epidemiological aspects. J Natl Cancer Inst 1976; 56: 489–491. Article CAS PubMed Google Scholar Singh AD, Topham A. Incidence of uveal melanoma in the United States: 1973–1997. [nature.com]