Last modified on 25 December 2006, at 16:15

Handbook of Genetic Counseling/1p36 Deletion Syndrome-1

1p36 Deletion Syndrome

IntroductionEdit

  • Introduce myself and acknowledge that I will be involved in their visit today.
  • Let them know that Counselor1 and Dr. Doktour will also be visiting with them today.
  • Small talk while walking to the room.
  • "What are your main concerns or questions that you would like addressed today?"

Interim HistoryEdit

  • Explain that all of their concerns will be addressed later in the session, but that I would like to update the medical and developmental history from her last visit in February.
  • Who is her pediatrician? Any other physicians?
  • Any serious illnesses, hospitalizations or surgeries since February?
  • Current Medications?
  • Immunizations up to date?

Review of SystemsEdit

  • Any diet or feeding concerns?
  • Any changes in skin pigmentation or birth marks?
  • Any heart concerns? (cardiologist found none)
  • Any bladder problems?
  • Any concerns about her hearing? Ear infections? PE tubes?
  • Any concerns with her behavior or sleep?
  • Any bowel problems? Constipation?
  • Any allergies?
  • Any concerns about vision or eyes?
  • Any concerns about seizures? Starring spells or repetitive behaviors?
  • Any other medical concerns (difficulty breathing)

Developmental AssessmentEdit

  • Language
    • How many words does she have in her vocabulary?
    • Is she learning to sign? How many signs does she know?
    • Does she combine words into two word sentences?
    • Does she follow one or two step commands?
    • Can she point to any body parts?
    • How well is she able to indicate her wants?
  • Gross Motor
    • Is she standing independently?
    • Is she cruising?
    • Is she walking? Up stairs?
  • Visual Motor
    • How well does she hold and manipulate a crayon?
    • Drink from a cup?
    • Uses a spoon to feed? Started using a fork?
    • Can she help undress or dress herself?
  • Social
    • Imitates housework?
    • Behavior? (Rocking)
  • How do you feel her development compares with other children?
  • Do you feel she is making progress?

Early InterventionEdit

  • Ask about OT, PT and speech therapy.
  • How often?
  • Where is she receiving services?
  • What are they working on and what are the goals?
  • Is insurance covering these costs?
  • How do you think she is progressing?

Psychosocial AssessmentEdit

  • Are all your other children living at home?
  • Things must be really hectic attending all her appointments and services on top of having ____ other children at home. How does it all work out?
  • Do you have help from other family members or others?
  • Do you have contact with any other families with 1p36 deletion syndrome?

Etiology of 1p36 deletion syndrome (monosomy 1p36)Edit

  • Caused by deletion of the most distal band of the short arm of chromosome1.
  • Most clinical manifestations are probably caused by the absence of one copy of a dose-sensitive gene and it is not possible to replace missing genes from chromosomes at this time.
  • Prevalence of this deletion is estimated to be 1 in 10,000 to as high as 1 in 5,000 (making it the most common terminal deletion)
  • Most cases result from sporadic deletions and are not inherited
  • 1p36 deletion syndrome is usually diagnosed through recognition of the symptoms and characteristics as well as lab testing. This is done using high resolution chromosome analysis, or FISH with a chromosome 1-specific subtelomeric probe. The deletion often doesn't show up clearly with standard cytogenetic banding techniques. (In one group studied, about half were missed with chromosome analysis)
  • Patients with a 1p36 deletion have different sized pieces of the chromosome missing and may result in phenotype variability
  • Severity of associated disorders varies, but the physical features are very similar
  • Degree of MR and ability to acquire complex speech is somewhat dependent on deletion size
  • Most deletions affect the chromosome inherited from the mother (68%), but there doesn't seem to be differences in the clinical manifestations based on whether the deletion is on the paternal or maternal chromosome.
  • Those with paternally derived deletions tend to have larger deletions than those with maternally derived deletions
  • Mechanism causing chromosome breakage is unknown

CharacteristicsEdit

  • Children with 1p36 deletion syndrome are all unique individuals, but do have some common characteristics.
  • Distinct facial features including: small and pointed chin, flat nasal bridge, low-set ears, ear asymmetry, thickened ear helices, small head, deep-set eyes, large anterior fontanel, clinodactyly and/or short fifth finger
  • Most patients have mental retardation
  • Most patients have delayed growth and/or difficulty gaining weight. Some have difficulty with sucking and swallowing while others may not grow well even though they eat well. Some older children may become obese.
  • Most young children with 1p36 deletion syndrome have delayed development.
  • They sit up, walk and talk later than typical children.
  • Speech is severely affected with many patients learning only a few words
  • Other medical problems: hypotony (which may explain delayed motor skills), hearing loss, seizures, eye/vision problems, hypothyroidism, increased risk for neuroblastoma, heart defects (which have included cardiomyopathy, ductus arteriosus, tetralogy of Fallot, VSD), and orofacial clefting abnormalities,

Recurrence Risk for next pregnancyEdit

  • The majority of patients with 1p36 deletion syndrome are isolated cases resulting from a de novo deletion. There have been reports of patients with 1p36 deletion syndrome whose parents have a balanced translocation.
  • Parents should be tested for chromosomal rearrangements because about 6% of parents with an affected child have a balanced translocation
  • Translocation increases the chances of having another child with a 1p36 deletion.
    • If no translocation is found the chances of having another child with a 1p36 deletion are very small

Prenatal DiagnosisEdit

  • In 1999 a case was reported in which a 1p36 deletion in a fetus was detected when an amniocentesis was performed due to detection of multiple malformations on ultrasound
  • Another case was picked up prenatally because of the presence of elevated maternal serum alpha-fetoprotein (no abnormal sign seen on ultrasound).
  • Another was diagnosed prenatally because the mother was known to have a balanced translocation between the short arms of chromosome 1 and 20 that was picked up after their first child had inherited an unbalanced product. (no abnormal sign seen on ultrasound)

Medical TreatmentEdit

  • Seizures can usually be controlled with medication
  • Medical interventions and feeding therapy may be needed to manage feeding issues
  • Early Intervention for developmental delay
  • Surgery may be necessary to correct heart defects, cleft lip, cleft palate if present
  • A urine screen for neuroblastoma should be performed every 6 months
  • Physical examinations should involve palpating the abdomen for lumps which might be neuroblastomas
  • There are no clear indications on whether they should continue to be followed by a cardiologist or whether the cardiomyopathy is limited to a congenital form.

Psychosocial IssuesEdit

  • Initially parents may experience denial about how severe the developmental delay and mental retardation will be
  • Blaming of self or partner may occur
  • Stress of having a child with developmental delays and mental retardation
  • Stress associated with having a child with serious medical problems especially if they have heart malformations or seizures
  • Fear that the child might develop a neuroblastoma or seizures
  • Time commitment involved with early intervention services (OT, PT, speech therapy)

Patient ResourcesEdit

  • Chromosome Deletion Outreach [1]
  • MUMS [2]

ReferencesEdit

  • Shaffer, L.G. and Heilstedt, H.A. Terminal Deletion of 1p36. The Lancet Supplement December 2001; 358:89.
  • Faivre, L. et al. (1999) Prenatal Detection of a 1p36 Deletion in a Fetus with Multiple Malformations and a Review of the Literature. Prenatal Diagnosis. 19:49-53
  • Heilstedt, H.A. et al. (2001) Loss of the Potassium Channel B-subunit gene, KCNAB2, Is Associated with Epilepsy in Patients with 1p36 Deletion Syndrome. Epilepsia. 42(9):1103-1111.
  • 1p36 patient literature by Counselor1 that is currently in the process of being completed

NotesEdit

The information for this outline was last updated in 2002.